Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP3697.RA97dyeBJU_RrZd7_H54sJS_zemVwJZUV82yxD5gwxdfQ130_assertion description "[Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3697.RA97dyeBJU_RrZd7_H54sJS_zemVwJZUV82yxD5gwxdfQ130_provenance.
• NP3708.RAxQyQxIxrHJKJfdZ5LRFBrO-6Ri34UkzlqomDXE7DhbQ130_assertion description "[Expanding the phenotypic spectrum of L1CAM-associated disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3708.RAxQyQxIxrHJKJfdZ5LRFBrO-6Ri34UkzlqomDXE7DhbQ130_provenance.
• NP3709.RAxuttPnd0peVFk48avo93SVUTXZmSvgac9uqXh7AIerk130_assertion description "[L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3709.RAxuttPnd0peVFk48avo93SVUTXZmSvgac9uqXh7AIerk130_provenance.
• NP3713.RA9Qt8uigYzIFtcRuH4_5tkDi3ugH1jQ9BJyamPO9qIfE130_assertion description "[Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3713.RA9Qt8uigYzIFtcRuH4_5tkDi3ugH1jQ9BJyamPO9qIfE130_provenance.
• NP3729.RAyP62X6C-kcDorQTQNlyk8u-I9eWeNsAVAKR34Dfx5mc130_assertion description "[Two novel molecular defects in the LCAT gene are associated with fish eye disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3729.RAyP62X6C-kcDorQTQNlyk8u-I9eWeNsAVAKR34Dfx5mc130_provenance.
• NP3730.RAwXF03Yz337Oi7HajK3vf0arM-h1awrefiJ5yg7A6yJs130_assertion description "[The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3730.RAwXF03Yz337Oi7HajK3vf0arM-h1awrefiJ5yg7A6yJs130_provenance.
• NP3733.RA9px_RPWa2zbmvWVK5lZAFB_UeolwdbNh9EYhts17hwg130_assertion description "[Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3733.RA9px_RPWa2zbmvWVK5lZAFB_UeolwdbNh9EYhts17hwg130_provenance.
• NP3739.RA_vN6wf4Oto445dfAZE77lLAb4isgv1o8FDIY3IzzgVo130_assertion description "[Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3739.RA_vN6wf4Oto445dfAZE77lLAb4isgv1o8FDIY3IzzgVo130_provenance.
• NP3740.RA9E5ycznvzTMoGO19L910p5KoXGfPa8T37LLpqD1Nnaw130_assertion description "[Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3740.RA9E5ycznvzTMoGO19L910p5KoXGfPa8T37LLpqD1Nnaw130_provenance.
• NP3743.RA5fJB1eElMU_hN1hJKA2ceit50rjQqiWLH7ALeiJGl6g130_assertion description "[Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3743.RA5fJB1eElMU_hN1hJKA2ceit50rjQqiWLH7ALeiJGl6g130_provenance.
• NP3750.RA7mv00QQ4q4YQ91JkfHf25b_Xn0LoCFPcH_nkbTIDCv0130_assertion description "[A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3750.RA7mv00QQ4q4YQ91JkfHf25b_Xn0LoCFPcH_nkbTIDCv0130_provenance.
• NP3757.RA9a9iwpAKIY2igtrrDQY4OF14Rg67JtIgl6dnolTJQzQ130_assertion description "[High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3757.RA9a9iwpAKIY2igtrrDQY4OF14Rg67JtIgl6dnolTJQzQ130_provenance.
• NP3758.RA9ICwAC-SvswYVjphOBkKCYbhko-dpt6tb_HWDJ7ua0g130_assertion description "[Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3758.RA9ICwAC-SvswYVjphOBkKCYbhko-dpt6tb_HWDJ7ua0g130_provenance.
• NP3762.RA-mYr9ZMzES2_Zy5vLQ3WKmWqbrDutLn296aSVTiuthc130_assertion description "[A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3762.RA-mYr9ZMzES2_Zy5vLQ3WKmWqbrDutLn296aSVTiuthc130_provenance.
• NP3767.RA1zZj9BV3SJG_UDsUVXu4NyGWu1C8o6S1fARj0_Be_4o130_assertion description "[Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3767.RA1zZj9BV3SJG_UDsUVXu4NyGWu1C8o6S1fARj0_Be_4o130_provenance.
• NP3768.RAzlmn7BEo3I2qI3TZ-HRyF3tQm9K40UrUfQBM-RKeB1Y130_assertion description "[Genetic analysis of the LHR revealed a homozygous missense mutation at exon 11 of the LHR gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3768.RAzlmn7BEo3I2qI3TZ-HRyF3tQm9K40UrUfQBM-RKeB1Y130_provenance.
• NP3771.RA6asgGUg_b9UoxTeHWvUHh36UTwPzUDN-jOhwKPLBlcA130_assertion description "[A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3771.RA6asgGUg_b9UoxTeHWvUHh36UTwPzUDN-jOhwKPLBlcA130_provenance.
• NP3774.RA7ODqn1uc4EsOgTZ1UeFAHElJWS2gahYxl4Wi6aCZSoQ130_assertion description "[Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3774.RA7ODqn1uc4EsOgTZ1UeFAHElJWS2gahYxl4Wi6aCZSoQ130_provenance.
• NP3779.RAwLxlei5MMvuKT3IjjOdPP9V3-iNoejQPjzyz25N-0YI130_assertion description "[A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3779.RAwLxlei5MMvuKT3IjjOdPP9V3-iNoejQPjzyz25N-0YI130_provenance.
• NP3781.RAybeJ_R9Wsnd4_1e0pMumCr1bIQx67nBW21Fn4to6-RU130_assertion description "[A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3781.RAybeJ_R9Wsnd4_1e0pMumCr1bIQx67nBW21Fn4to6-RU130_provenance.
• NP3782.RA9SkOQotY6XJ6szrGeUPII_ypzg4GgMuUhABBo5RhWaw130_assertion description "[A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3782.RA9SkOQotY6XJ6szrGeUPII_ypzg4GgMuUhABBo5RhWaw130_provenance.
• NP3785.RAx2zgnXRtkc40BiLCTQ8rWgzJL4hG5heYM-_7jNXrCpY130_assertion description "[In boys with familial male-limited precocious puberty, an activating mutation of the luteinizing hormone receptor causes Leydig cell hyperplasia, resulting in excess testosterone production.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3785.RAx2zgnXRtkc40BiLCTQ8rWgzJL4hG5heYM-_7jNXrCpY130_provenance.
• NP3788.RAz3l4AHHMPY8IJjDnzNGT0alCNK5jpUdC0XRSM1F4iU0130_assertion description "[Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the `hurry scurry` mouse and in two DFNB67-linked families from Pakistan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3788.RAz3l4AHHMPY8IJjDnzNGT0alCNK5jpUdC0XRSM1F4iU0130_provenance.
• NP3794.RAxFMGEmFQ3tlPcarG1qc3lgiSe7izn0aSLPN8g8gJ5dM130_assertion description "[Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3794.RAxFMGEmFQ3tlPcarG1qc3lgiSe7izn0aSLPN8g8gJ5dM130_provenance.
• NP3801.RAwdBdZt9rwNj0Vf_uyHP60zpTy0yyfOWDTS5bCsFNSmc130_assertion description "[The authors identified missense mutations (G112S, T115N, W116G) in the LITAFgene (lipopolysaccharide-induced tumor necrosis factor-alpha factor) in three CMT1C pedigrees.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3801.RAwdBdZt9rwNj0Vf_uyHP60zpTy0yyfOWDTS5bCsFNSmc130_provenance.
• NP3805.RA3-X_aSncK7J4L3Yi2Lto2FH4HV4TS1IarMHUikKgqU0130_assertion description "[Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3805.RA3-X_aSncK7J4L3Yi2Lto2FH4HV4TS1IarMHUikKgqU0130_provenance.
• NP3813.RAyQ7s_ogUCVUV7sEHLbAHxU6X0RDZPCuSNZSkgfIqGps130_assertion description "[Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3813.RAyQ7s_ogUCVUV7sEHLbAHxU6X0RDZPCuSNZSkgfIqGps130_provenance.
• NP3816.RAxT1HpxuhvoZ1QGemKrgffulC6hzfzQyS_hlR8TG2P4U130_assertion description "[Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3816.RAxT1HpxuhvoZ1QGemKrgffulC6hzfzQyS_hlR8TG2P4U130_provenance.
• NP3817.RAy_-lgMU19R0s42aItBt_-171ACpqIKfE1TV35Ahs_rg130_assertion description "[In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3817.RAy_-lgMU19R0s42aItBt_-171ACpqIKfE1TV35Ahs_rg130_provenance.
• NP3830.RA0uAITsK2_WT9Z19rwpAlHn-2zx2IWLVrFgaaL2gy2bg130_assertion description "[Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3830.RA0uAITsK2_WT9Z19rwpAlHn-2zx2IWLVrFgaaL2gy2bg130_provenance.
• NP3831.RA-ekmlGalJ0UcHoUqvgjZBATMVl72He_uekuTHB5QH54130_assertion description "[Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3831.RA-ekmlGalJ0UcHoUqvgjZBATMVl72He_uekuTHB5QH54130_provenance.
• NP3835.RA23iamcEMpulmd2il3ulfYkT-qT7BkSGHwS-S8JBUUBE130_assertion description "[LMNA mutations in atypical Werner's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3835.RA23iamcEMpulmd2il3ulfYkT-qT7BkSGHwS-S8JBUUBE130_provenance.
• NP3841.RA8ftkzMgVtJAGLId-VJwrIQ3b1Cq7HQH7eIuh8ABhiVE130_assertion description "[Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3841.RA8ftkzMgVtJAGLId-VJwrIQ3b1Cq7HQH7eIuh8ABhiVE130_provenance.
• NP3842.RAyl62z464cDOGNJae4wP6oW1r-kw15ufLE4QHOyu-ejs130_assertion description "[To our knowledge, this report constitutes the first evidence of the recessive inheritance of a mutation that causes CMT2; additionally, we suggest that mutations in LMNA may also be the cause of the genetically overlapping disorder CMT2B1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3842.RAyl62z464cDOGNJae4wP6oW1r-kw15ufLE4QHOyu-ejs130_provenance.
• NP3850.RAwdgbTWIDrxB41RGf_ODZ1Wft4T-WczrEoCprOFWIRAk130_assertion description "[Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3850.RAwdgbTWIDrxB41RGf_ODZ1Wft4T-WczrEoCprOFWIRAk130_provenance.
• NP3855.RA-Ki2-b1xjsULVp4Qn709B1kFBG-XiTivyvpTwEyNksI130_assertion description "[A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3855.RA-Ki2-b1xjsULVp4Qn709B1kFBG-XiTivyvpTwEyNksI130_provenance.
• NP3857.RAz8WbxTMU8VhmsKrsQnCyTksGUq8SEIwpYmekw85WjWU130_assertion description "[Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3857.RAz8WbxTMU8VhmsKrsQnCyTksGUq8SEIwpYmekw85WjWU130_provenance.
• NP3860.RA_-bXGDkp0VQlrk0wxtEA_-MBNq1ZDP1AVckkLKXTzmE130_assertion description "[Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3860.RA_-bXGDkp0VQlrk0wxtEA_-MBNq1ZDP1AVckkLKXTzmE130_provenance.
• NP3861.RA4m2K8vYAgOix2wEfZa5fU0SrTPJ3W3oSLhXJlWn3cx0130_assertion description "[Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3861.RA4m2K8vYAgOix2wEfZa5fU0SrTPJ3W3oSLhXJlWn3cx0130_provenance.
• NP3862.RA5MYTDyBC-QiI3b-8jF8mWUIz9bPxCcn81Rb7fD1CjuM130_assertion description "[Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3862.RA5MYTDyBC-QiI3b-8jF8mWUIz9bPxCcn81Rb7fD1CjuM130_provenance.
• NP3869.RA8i5vWt0j4oUItgJKMtBvoYRmFQQWDG51pyLDXs_8bAg130_assertion description "[Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3869.RA8i5vWt0j4oUItgJKMtBvoYRmFQQWDG51pyLDXs_8bAg130_provenance.
• NP3871.RA-aCNAfmHBbenyhSWLWHjeHkJ37qV90mUnKFcC-lLmWg130_assertion description "[Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3871.RA-aCNAfmHBbenyhSWLWHjeHkJ37qV90mUnKFcC-lLmWg130_provenance.
• NP3876.RA5cxu2kBFfq9yMF8gmapjXIQt9AHqUS6YBR0wuNoOUgo130_assertion description "[Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3876.RA5cxu2kBFfq9yMF8gmapjXIQt9AHqUS6YBR0wuNoOUgo130_provenance.
• NP3881.RAyd3-SpwufOuCXqZGJ1yFVSXCLJiBTjfYncwokHo0WZo130_assertion description "[Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3881.RAyd3-SpwufOuCXqZGJ1yFVSXCLJiBTjfYncwokHo0WZo130_provenance.
• NP3884.RA1a_Fnsw6seLQpSE-4oDEfCMj317MS0nclAS6PDuy-SU130_assertion description "[Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3884.RA1a_Fnsw6seLQpSE-4oDEfCMj317MS0nclAS6PDuy-SU130_provenance.
• NP3889.RA9yazZo4dzL0H4Ubm6oM8JWTcsx-pdJBcN0nvesdnO_U130_assertion description "[Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3889.RA9yazZo4dzL0H4Ubm6oM8JWTcsx-pdJBcN0nvesdnO_U130_provenance.
• NP3891.RA4XXwbfn6l4TQV3-YC-_IH4sV2i1BeKuW68SgvU6OxK0130_assertion description "[A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3891.RA4XXwbfn6l4TQV3-YC-_IH4sV2i1BeKuW68SgvU6OxK0130_provenance.
• NP3904.RAwn6F6vpSBY5LviyIHRdpicdt1k9hKcdCuhDnijMJIAs130_assertion description "[A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant `cerulean cataract` in an Indian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3904.RAwn6F6vpSBY5LviyIHRdpicdt1k9hKcdCuhDnijMJIAs130_provenance.
• NP3909.RA39ozpW0GN0mU1BnGHzX02GmVj1kk7GpnDu_Vky2xz8w130_assertion description "[alpha-Mannosidosis is an autosomal recessive disorder caused by deficiency of lysosomal alpha-mannosidase (LAMAN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3909.RA39ozpW0GN0mU1BnGHzX02GmVj1kk7GpnDu_Vky2xz8w130_provenance.
• NP3911.RA2YUJtRtyKWVelkJ9QtBRAeFf9Vneecg4pA9wv89EaS4130_assertion description "[Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3911.RA2YUJtRtyKWVelkJ9QtBRAeFf9Vneecg4pA9wv89EaS4130_provenance.
• NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_assertion description "[Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3912.RA2XS8g_CQUSMbzEMI1XRM7ksDcnGTU5qfr9HI2psQ_HM130_provenance.
• NP3914.RA5xVDRtht0vQf9iI6oxRG1TjM-hV-G3hRPFJDLeR_rMM130_assertion description "[Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3914.RA5xVDRtht0vQf9iI6oxRG1TjM-hV-G3hRPFJDLeR_rMM130_provenance.
• NP3918.RA3hXUAwycIap4RO7ByGeakyVNa764FpAkk0K_JlWc3bM130_assertion description "[A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3918.RA3hXUAwycIap4RO7ByGeakyVNa764FpAkk0K_JlWc3bM130_provenance.
• NP3921.RA63CdtJ0_EFL8dgGSBi-ESVKx3QPSzgWuiAq0DrHfLZQ130_assertion description "[Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3921.RA63CdtJ0_EFL8dgGSBi-ESVKx3QPSzgWuiAq0DrHfLZQ130_provenance.
• NP3922.RAwVFmKtZ-BnhV3UgKMn1XPBnLqM4jT_6FCJtdkV6ngr8130_assertion description "[Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3922.RAwVFmKtZ-BnhV3UgKMn1XPBnLqM4jT_6FCJtdkV6ngr8130_provenance.
• NP3926.RAx6fYHh9qxLIUkuZAvqRWG1K-ZVHuA9VsDc--73UCFYk130_assertion description "[A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3926.RAx6fYHh9qxLIUkuZAvqRWG1K-ZVHuA9VsDc--73UCFYk130_provenance.
• NP3934.RAwcdWBjl8Ua7PfKRlATshHKpGGhe3ZeZVoc-9urXkQG0130_assertion description "[Genetic deficiency of alpha/beta-MAT causes isolated persistent hypermethioninemia and, in some cases, unusual breath odor or neural demyelination.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3934.RAwcdWBjl8Ua7PfKRlATshHKpGGhe3ZeZVoc-9urXkQG0130_provenance.
• NP3938.RA3wQlA8tuNsYpWJm012wGIFRImWy2MiPr_JoLR0k8llM130_assertion description "[Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3938.RA3wQlA8tuNsYpWJm012wGIFRImWy2MiPr_JoLR0k8llM130_provenance.
• NP3939.RA5XnVx4h2r7zzw7pwDYsEB-OS5ToNJ4Rx004jgY46VXg130_assertion description "[Linkage and mutation analysis of matrilin-3 (MATN-3) revealed a new pathogenic mutation confirming that BHMED is indeed a distinct disease entity among MED and MED-like disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3939.RA5XnVx4h2r7zzw7pwDYsEB-OS5ToNJ4Rx004jgY46VXg130_provenance.
• NP3940.RAyqKitSgEz4WvctyDK0rU8iE_aG_x41N-HSw6CcZPnwo130_assertion description "[Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3940.RAyqKitSgEz4WvctyDK0rU8iE_aG_x41N-HSw6CcZPnwo130_provenance.
• NP3942.RA_Jh7Os2r6mi-ZNvt5FhA6j6Xi6LQeTFVuRJx4NQKhC0130_assertion description "[Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3942.RA_Jh7Os2r6mi-ZNvt5FhA6j6Xi6LQeTFVuRJx4NQKhC0130_provenance.
• NP3945.RAzpU2X8eu5SPTCJNIrizOUKQSBPxpK98bYe3LFbYEhCc130_assertion description "[Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3945.RAzpU2X8eu5SPTCJNIrizOUKQSBPxpK98bYe3LFbYEhCc130_provenance.
• NP3947.RAwlyrz6hUJ3BzEKm7kweixV3JNcpgRu1X4ohjcyXRm0U130_assertion description "[Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3947.RAwlyrz6hUJ3BzEKm7kweixV3JNcpgRu1X4ohjcyXRm0U130_provenance.
• NP3948.RAxsu4A821zjw_gl_fZVxtW-Y2RqIEpIiSqGUsqoeGLLU130_assertion description "[Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3948.RAxsu4A821zjw_gl_fZVxtW-Y2RqIEpIiSqGUsqoeGLLU130_provenance.
• NP3959.RAzIP4CTPJaYp5pc_IK3VhutU-_v-dgd2pPhWr-w9TMhw130_assertion description "[The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3959.RAzIP4CTPJaYp5pc_IK3VhutU-_v-dgd2pPhWr-w9TMhw130_provenance.
• NP3964.RA07ItZoySppfva2Au5_Rg2HrnSN-pYoOS8pYd44TINxs130_assertion description "[The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3964.RA07ItZoySppfva2Au5_Rg2HrnSN-pYoOS8pYd44TINxs130_provenance.
• NP3967.RAwbOs-Rx02qxr3OTsSdrRp_XV4AmFKlZLdlDSdOFodOo130_assertion description "[Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3967.RAwbOs-Rx02qxr3OTsSdrRp_XV4AmFKlZLdlDSdOFodOo130_provenance.
• NP3969.RA2wf63h8ffNQHNDjSwcMK47CAk9MB04MhgZYYgXTF0Hs130_assertion description "[Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for mucolipin, a member of the transient receptor potential (TRP) gene family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3969.RA2wf63h8ffNQHNDjSwcMK47CAk9MB04MhgZYYgXTF0Hs130_provenance.
• NP3970.RA7JIZy1OjgMMdcO6KSAae3L5MgCebB6XdKFUY3I6KIz4130_assertion description "[Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3970.RA7JIZy1OjgMMdcO6KSAae3L5MgCebB6XdKFUY3I6KIz4130_provenance.
• NP3971.RA2JYoCBvZwoozEOhdkFzxd9oYyoFfAboF8PnhD8MrfpI130_assertion description "[Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3971.RA2JYoCBvZwoozEOhdkFzxd9oYyoFfAboF8PnhD8MrfpI130_provenance.
• NP3973.RA_tfmo5DjOwabQUGFY81sph50e3_hvck-ciTCU6pO6jA130_assertion description "[The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3973.RA_tfmo5DjOwabQUGFY81sph50e3_hvck-ciTCU6pO6jA130_provenance.
• NP3974.RA9F7c1a3Y-B-vv9Dj2_3rv9MjYb0N_gnyhm0ZMrWjL3A130_assertion description "[Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3974.RA9F7c1a3Y-B-vv9Dj2_3rv9MjYb0N_gnyhm0ZMrWjL3A130_provenance.
• NP3975.RA3LG2DKWAAdefjOo0ktt7P3T69t0R13WzKUi3GVdBk8k130_assertion description "[Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3975.RA3LG2DKWAAdefjOo0ktt7P3T69t0R13WzKUi3GVdBk8k130_provenance.
• NP3976.RA7WX0YiLl59MtWwYr6v25ukIfzOMkjsWVDXcHpRsdRBI130_assertion description "[MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3976.RA7WX0YiLl59MtWwYr6v25ukIfzOMkjsWVDXcHpRsdRBI130_provenance.
• NP3979.RA0EHvKOeaf5_z_81DgG82_FrfO7YCKsujntfCL5bSCDQ130_assertion description "[Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3979.RA0EHvKOeaf5_z_81DgG82_FrfO7YCKsujntfCL5bSCDQ130_provenance.
• NP3983.RAxW_bSgkRsXCPv1EYv-E0pkJ3Pg3K4e93zHzcUvI9z9A130_assertion description "[Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3983.RAxW_bSgkRsXCPv1EYv-E0pkJ3Pg3K4e93zHzcUvI9z9A130_provenance.
• NP3984.RA4QJsA2LhhDZqEZNOYcDfJV8VbHljsjFDFo_a5vO-bRE130_assertion description "[A Rett syndrome MECP2 mutation that causes mental retardation in men.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3984.RA4QJsA2LhhDZqEZNOYcDfJV8VbHljsjFDFo_a5vO-bRE130_provenance.
• NP3986.RA7PqmCFTUsGIxW76Z2RFWc0LqFT2FY1A21efxR7NaYsg130_assertion description "[Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3986.RA7PqmCFTUsGIxW76Z2RFWc0LqFT2FY1A21efxR7NaYsg130_provenance.
• NP3988.RAz_XBHg0q2wTcKH97VbCpK9s2XBEz9fqA_hfpCKm3pIg130_assertion description "[A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3988.RAz_XBHg0q2wTcKH97VbCpK9s2XBEz9fqA_hfpCKm3pIg130_provenance.
• NP3994.RA_hWVLN-DN7Ng_HzmilnT7nm18hEA9Hrma6rcFsJOoDs130_assertion description "[Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3994.RA_hWVLN-DN7Ng_HzmilnT7nm18hEA9Hrma6rcFsJOoDs130_provenance.
• NP4002.RA5Y3Qrrd41W0BjuRQu3XRa5Qq1dYaBTJisBly6WrgXgI130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4002.RA5Y3Qrrd41W0BjuRQu3XRa5Qq1dYaBTJisBly6WrgXgI130_provenance.
• NP4003.RA8d9dkwG-fgTrWdl4cxwmH3YZXqoiCDbBlhntE_pZwwU130_assertion description "[The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination `hot-spot` at the MEFV locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4003.RA8d9dkwG-fgTrWdl4cxwmH3YZXqoiCDbBlhntE_pZwwU130_provenance.
• NP4004.RAzfmxKrT07AK4bR-UDw79Z-oBNcN2FGyYOJM8vSeNrZg130_assertion description "[Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4004.RAzfmxKrT07AK4bR-UDw79Z-oBNcN2FGyYOJM8vSeNrZg130_provenance.
• NP4013.RAyngPyv7Oq3noPxdcqLslT5b0m5UTJO2kLQhJ7khy27g130_assertion description "[Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4013.RAyngPyv7Oq3noPxdcqLslT5b0m5UTJO2kLQhJ7khy27g130_provenance.
• NP4023.RA5hZoTA4B_o6dXPy_8flP0MnRDj5MGwHofA0wMuEJQ_o130_assertion description "[Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4023.RA5hZoTA4B_o6dXPy_8flP0MnRDj5MGwHofA0wMuEJQ_o130_provenance.
• NP4037.RA3z_CiTJWthQplogadnG72R8Fq1z9K3kMAmV9Yk6JQ8E130_assertion description "[Mutations in eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8) have been identified and several more are predicted to exist, including two provisionally named CLN4 and CLN9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4037.RA3z_CiTJWthQplogadnG72R8Fq1z9K3kMAmV9Yk6JQ8E130_provenance.
• NP4043.RA9t5cJw5IiGKcBclFDUDoQxMg7VTavlNTzCSC2uRudYs130_assertion description "[Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4043.RA9t5cJw5IiGKcBclFDUDoQxMg7VTavlNTzCSC2uRudYs130_provenance.
• NP4044.RA4YflDc2UWCLCl1Ooe1suY4HPIDD9EJYzuLVmpWsBBNY130_assertion description "[The mutational spectrum in Waardenburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4044.RA4YflDc2UWCLCl1Ooe1suY4HPIDD9EJYzuLVmpWsBBNY130_provenance.
• NP4045.RA6TzebtKM-vQFK9ECQhaXH5kcs-FnQ4v88_EyOf2qwnM130_assertion description "[TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4045.RA6TzebtKM-vQFK9ECQhaXH5kcs-FnQ4v88_EyOf2qwnM130_provenance.
• NP4048.RA3Vx7RKbVkCRoJ2wUS8raBw7OrHIAXlugKjbrP3TRLf8130_assertion description "[Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4048.RA3Vx7RKbVkCRoJ2wUS8raBw7OrHIAXlugKjbrP3TRLf8130_provenance.
• NP4049.RAyR0mAD6YbnvVh0LnttPTeUFionRRBkVv6NPoCQ6kFoc130_assertion description "[Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4049.RAyR0mAD6YbnvVh0LnttPTeUFionRRBkVv6NPoCQ6kFoc130_provenance.
• NP4052.RA2eI9Fx7qPOC7gnoyNfjqsHn4ebAM2RGs7UrhjBqOwjQ130_assertion description "[Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4052.RA2eI9Fx7qPOC7gnoyNfjqsHn4ebAM2RGs7UrhjBqOwjQ130_provenance.
• NP4056.RAwlmuIDxFHtbT6kvH529KR1aPGp0bjcxedk824W5yUwc130_assertion description "[BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4056.RAwlmuIDxFHtbT6kvH529KR1aPGp0bjcxedk824W5yUwc130_provenance.
• NP4057.RA39kBHvHiqJQ7JfS4pyr_x6nx8nxdtk-SdzjwcOQob_s130_assertion description "[Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4057.RA39kBHvHiqJQ7JfS4pyr_x6nx8nxdtk-SdzjwcOQob_s130_provenance.
• NP4058.RA0ZYkT-UYLEmg6BlErzSk_DSJD-7ywCyHFhNiLXNGtAM130_assertion description "[Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4058.RA0ZYkT-UYLEmg6BlErzSk_DSJD-7ywCyHFhNiLXNGtAM130_provenance.
• NP4060.RAyxAnu4_yo7SdPCl6UK0BlHw8B4eZqlZckymHRlRXGO0130_assertion description "[Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4060.RAyxAnu4_yo7SdPCl6UK0BlHw8B4eZqlZckymHRlRXGO0130_provenance.
• NP4066.RA5hzbYi4dbEMhdVcT10vT1G-CRg--7jRje7_Vhh71mc0130_assertion description "[Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4066.RA5hzbYi4dbEMhdVcT10vT1G-CRg--7jRje7_Vhh71mc0130_provenance.
• NP4070.RA-ZfUEsoYIFlVWTeZBHGkZH7jfGTL2w-kgW1uGNwOoWE130_assertion description "[Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4070.RA-ZfUEsoYIFlVWTeZBHGkZH7jfGTL2w-kgW1uGNwOoWE130_provenance.
• NP4073.RA0iGOTb5AxRtgVTYuZm3Hn8BRK4mRwfdBbMpwJ1QwtdU130_assertion description "[Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4073.RA0iGOTb5AxRtgVTYuZm3Hn8BRK4mRwfdBbMpwJ1QwtdU130_provenance.
• NP4074.RA_VGIODNGJL-XUubIqg4KsiDQe7FAZaw4TWg7tI6f86M130_assertion description "[Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4074.RA_VGIODNGJL-XUubIqg4KsiDQe7FAZaw4TWg7tI6f86M130_provenance.

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