Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP519.RA-15Avkmw4w5y70AnwV74jRsGVELxeZps0-dkHxWFFUw130_assertion description "[Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP519.RA-15Avkmw4w5y70AnwV74jRsGVELxeZps0-dkHxWFFUw130_provenance.
- NP521.RA8Vj0AZxfjxAM5CB3kwBU8UqSEknp6xqL7q1v6i3Fy34130_assertion description "[Molecular analysis of acid ceramidase deficiency in patients with Farber disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP521.RA8Vj0AZxfjxAM5CB3kwBU8UqSEknp6xqL7q1v6i3Fy34130_provenance.
- NP527.RAzuqR837HkzDShrZ3EjgBbc8j6clv2EICuZUojvkU8zo130_assertion description "[Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP527.RAzuqR837HkzDShrZ3EjgBbc8j6clv2EICuZUojvkU8zo130_provenance.
- NP528.RA_NqcrhhGqMojiNlG2nWPpZQMkZ1GItbafJcYI-k-D70130_assertion description "[Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528.RA_NqcrhhGqMojiNlG2nWPpZQMkZ1GItbafJcYI-k-D70130_provenance.
- NP531.RAxUtyNfuqZUDYEtQrvvwYZb_r3-oQCPhOfRQwcmk8z2Y130_assertion description "[Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP531.RAxUtyNfuqZUDYEtQrvvwYZb_r3-oQCPhOfRQwcmk8z2Y130_provenance.
- NP532.RA4Y-enEejZ-BUnOs-UO7HdNjhjjzY8Iok03N--glLxrY130_assertion description "[The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP532.RA4Y-enEejZ-BUnOs-UO7HdNjhjjzY8Iok03N--glLxrY130_provenance.
- NP534.RA-F3BQzjh7sPFWqkhafHO0ig8JJNWje200fFeaiav66o130_assertion description "[Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP534.RA-F3BQzjh7sPFWqkhafHO0ig8JJNWje200fFeaiav66o130_provenance.
- NP540.RA5Joetl-IHC5_g8y12pyvPA6fnEK13GGHr50ei-oWxwc130_assertion description "[Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540.RA5Joetl-IHC5_g8y12pyvPA6fnEK13GGHr50ei-oWxwc130_provenance.
- NP547.RA-qKj-_uaxOsuObzCQn087zMH5rIa_a6zkz5fS9naY4c130_assertion description "[AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547.RA-qKj-_uaxOsuObzCQn087zMH5rIa_a6zkz5fS9naY4c130_provenance.
- NP548.RAxk4ERid-a0GmxoG3pVvGpx22tOTqoLsZW90ubPHq9jY130_assertion description "[Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP548.RAxk4ERid-a0GmxoG3pVvGpx22tOTqoLsZW90ubPHq9jY130_provenance.
- NP549.RAx7-Kv_kvsgDtIucF9SXa8PngWXD9dUfikkgPFuhDFO0130_assertion description "[Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP549.RAx7-Kv_kvsgDtIucF9SXa8PngWXD9dUfikkgPFuhDFO0130_provenance.
- NP556.RA3E87Ash8u5Q_dYHWq__hcRI_I-SHitmGe9XLYNqUva4130_assertion description "[ATM is an interesting candidate as a tumor suppressor gene because constitutive inactivation of the gene predisposes ataxia telangiectasia patients to lymphoid malignancies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP556.RA3E87Ash8u5Q_dYHWq__hcRI_I-SHitmGe9XLYNqUva4130_provenance.
- NP561.RA_DsY0atBGE-uZRlWYyNJs1ZdwsIJ6u7ZXpJLlqeUR4U130_assertion description "[We also show that 25% of all A-T patients carried in-frame deletions or missense mutations, many of which were also associated with expression of mutant ATM protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP561.RA_DsY0atBGE-uZRlWYyNJs1ZdwsIJ6u7ZXpJLlqeUR4U130_provenance.
- NP562.RAzjnT6W1YIfFAw4SDp7nzP_TtA75uS5yqQooLi3BhJiQ130_assertion description "[We also provide evidence that ATM protein binds to p53 and this association is defective in A-T cells compatible with the defective p53 response in these cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP562.RAzjnT6W1YIfFAw4SDp7nzP_TtA75uS5yqQooLi3BhJiQ130_provenance.
- NP570.RA-1L1BBBVSccxqSQAWIsV8b_lcpvKIPwwwjkS7Wy1jRc130_assertion description "[Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP570.RA-1L1BBBVSccxqSQAWIsV8b_lcpvKIPwwwjkS7Wy1jRc130_provenance.
- NP571.RA2NNAOWq_EYprE352WwACoKyBe_cCd4qZtKjTWI1_c4U130_assertion description "[Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP571.RA2NNAOWq_EYprE352WwACoKyBe_cCd4qZtKjTWI1_c4U130_provenance.
- NP579.RA9h2gM54msrDevdnCSnZZBRBX7GIlpgcuS-rIy-KA59Q130_assertion description "[Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP579.RA9h2gM54msrDevdnCSnZZBRBX7GIlpgcuS-rIy-KA59Q130_provenance.
- NP581.RAwQmo99mgcfMgRwxHxE1UUat56wC57kXrCgvTagtyUfk130_assertion description "[Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP581.RAwQmo99mgcfMgRwxHxE1UUat56wC57kXrCgvTagtyUfk130_provenance.
- NP583.RAwNqxfwPXnbtNQgL7guR0POnQNeETLyqu_B40bVQqZnM130_assertion description "[Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP583.RAwNqxfwPXnbtNQgL7guR0POnQNeETLyqu_B40bVQqZnM130_provenance.
- NP587.RA3cjNMyCX4r0SAL19R4dWrggCyhN_e9RXdOus0czH-wA130_assertion description "[Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP587.RA3cjNMyCX4r0SAL19R4dWrggCyhN_e9RXdOus0czH-wA130_provenance.
- NP589.RA701koiotCHkeXdw8ohPWwHWj98uQmhpz-yk3KPTQ0Ho130_assertion description "[We demonstrate here that mutations in ATP6B1, encoding the B-subunit of the apical proton pump mediating distal nephron acid secretion, cause distal renal tubular acidosis, a condition characterized by impaired renal acid secretion resulting in metabolic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP589.RA701koiotCHkeXdw8ohPWwHWj98uQmhpz-yk3KPTQ0Ho130_provenance.
- NP591.RA2A1Hj29GQgTwmeMKLoY9a3n_5z2w4w8TpeRnApuCVa0130_assertion description "[Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the `MNK` gene).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP591.RA2A1Hj29GQgTwmeMKLoY9a3n_5z2w4w8TpeRnApuCVa0130_provenance.
- NP593.RA0kHvPMqpQxpSbNpWJxpG7C9TsH8jsBlUwzHiuRH2rn4130_assertion description "[Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP593.RA0kHvPMqpQxpSbNpWJxpG7C9TsH8jsBlUwzHiuRH2rn4130_provenance.
- NP605.RA-YLWRRdeiy5Llnvmkq8Is7hHEDFj_TddEGR7mZ5dEJI130_assertion description "[A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP605.RA-YLWRRdeiy5Llnvmkq8Is7hHEDFj_TddEGR7mZ5dEJI130_provenance.
- NP606.RA5S2M-AHD-QW79DCyLGlP_Tie0MzKtsJHG0qvJHmGNBE130_assertion description "[Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP606.RA5S2M-AHD-QW79DCyLGlP_Tie0MzKtsJHG0qvJHmGNBE130_provenance.
- NP608.RA0rKfgj8uSgYbik2yx2vVOyC6tx0nlC9OHoarP45wh7M130_assertion description "[In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP608.RA0rKfgj8uSgYbik2yx2vVOyC6tx0nlC9OHoarP45wh7M130_provenance.
- NP612.RA0lTy1mtsuAe8scuVb0s2J__8HfwbSSXIb1GfmJwlIpo130_assertion description "[Characterization of mutations in ATP8B1 associated with hereditary cholestasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP612.RA0lTy1mtsuAe8scuVb0s2J__8HfwbSSXIb1GfmJwlIpo130_provenance.
- NP618.RAySXQrYR1Cdhco-8n-V8hoVk9VCKBdfUUPFKF6F6m504130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP618.RAySXQrYR1Cdhco-8n-V8hoVk9VCKBdfUUPFKF6F6m504130_provenance.
- NP623.RA_WHqauTNWcSznGOEnyKETQp95tQGk_OgQL2XP3fy6_c130_assertion description "[A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP623.RA_WHqauTNWcSznGOEnyKETQp95tQGk_OgQL2XP3fy6_c130_provenance.
- NP629.RA-wdq8To4gtMTvjhtt7oG7RPpuvVEgDyJ-Uuv76mzQOU130_assertion description "[A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP629.RA-wdq8To4gtMTvjhtt7oG7RPpuvVEgDyJ-Uuv76mzQOU130_provenance.
- NP630.RA3duk4khEuVlnRGfRzGnO7EhAB7AZ_v8fzEcmkB2342M130_assertion description "[Asplenia in ATR-X syndrome: a second report.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP630.RA3duk4khEuVlnRGfRzGnO7EhAB7AZ_v8fzEcmkB2342M130_provenance.
- NP640.RA5absxMffybQS__GQYKne7jbe_PLRnOAbTv6AHJYfczs130_assertion description "[A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP640.RA5absxMffybQS__GQYKne7jbe_PLRnOAbTv6AHJYfczs130_provenance.
- NP641.RA1naaoCETyXLF69LjfQBpaj59NbTh7DnW1xQf4eY8O9A130_assertion description "[A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP641.RA1naaoCETyXLF69LjfQBpaj59NbTh7DnW1xQf4eY8O9A130_provenance.
- NP643.RAyhI5Sa5LLIiQ793kaaBrb9fEppN_NhGivipl2EljWfQ130_assertion description "[Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP643.RAyhI5Sa5LLIiQ793kaaBrb9fEppN_NhGivipl2EljWfQ130_provenance.
- NP649.RA0wLKYmslaEoRQkbupGnoa89r_Iv442SUhx-zNRNCUtA130_assertion description "[Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP649.RA0wLKYmslaEoRQkbupGnoa89r_Iv442SUhx-zNRNCUtA130_provenance.
- NP654.RA8Vj-SPa2op230w9GSk4eDYS4dBk4v0cyT9MNoCCmbcM130_assertion description "[Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP654.RA8Vj-SPa2op230w9GSk4eDYS4dBk4v0cyT9MNoCCmbcM130_provenance.
- NP659.RAwt0csegV7Y3Tpnt6xBANK06cfTvBlPQgLQ-FPHhRBoA130_assertion description "[Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP659.RAwt0csegV7Y3Tpnt6xBANK06cfTvBlPQgLQ-FPHhRBoA130_provenance.
- NP669.RA-KBXzLq7DRuV9kMokUkKZIOubExMMx2-8J8Y5qzGBOw130_assertion description "[Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP669.RA-KBXzLq7DRuV9kMokUkKZIOubExMMx2-8J8Y5qzGBOw130_provenance.
- NP675.RAxA3GloM-CQlZ7Sdd73CTt0lx5lolYvIUYmrve5qUYwU130_assertion description "[Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP675.RAxA3GloM-CQlZ7Sdd73CTt0lx5lolYvIUYmrve5qUYwU130_provenance.
- NP676.RAwSzTptr6CSupfpmT_7Ee81xPOJETCmWioSfaq5ka6bQ130_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." NP676.RAwSzTptr6CSupfpmT_7Ee81xPOJETCmWioSfaq5ka6bQ130_provenance.
- NP678.RA5wKaxp8Oln1N1cRB33yruweMkT--uWfLLIHtq6oDzf8130_assertion description "[Further support for digenic inheritance in Bardet-Biedl syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP678.RA5wKaxp8Oln1N1cRB33yruweMkT--uWfLLIHtq6oDzf8130_provenance.
- NP681.RAzKB9EBrZy6e52rm2SbDOl1m5h6O8HTTZl9z6yY-ag-8130_assertion description "[Bardet-Biedl syndrome (BBS) is a heterogeneous disease; to date seven loci have been mapped and five identified (BBS1, BBS2, BBS4, BBS6, and BBS7).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP681.RAzKB9EBrZy6e52rm2SbDOl1m5h6O8HTTZl9z6yY-ag-8130_provenance.
- NP683.RA3eXudh6Gkfq2hMSQXyUqILyZGN2IPjdx3ENxOI9EriU130_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." NP683.RA3eXudh6Gkfq2hMSQXyUqILyZGN2IPjdx3ENxOI9EriU130_provenance.
- NP684.RA0HXXUmEbsRFrG4WITHpVxhm4Jmu4zP_Ro555gpTIAC4130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP684.RA0HXXUmEbsRFrG4WITHpVxhm4Jmu4zP_Ro555gpTIAC4130_provenance.
- NP685.RA0DKS48LBIyEoq5adECzUN3DNskyn_HzDMMXkdQvd3C4130_assertion description "[BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP685.RA0DKS48LBIyEoq5adECzUN3DNskyn_HzDMMXkdQvd3C4130_provenance.
- NP687.RA_z1JjoRWC5Nvko3HYSOmHEEZDgvgdKw7qY-spQmYToo130_assertion description "[In the present study, we demonstrate that BBS2L1 mutations cause BBS, thereby defining a novel locus for this syndrome, BBS7, whereas BBS2L2 has been shown independently to be BBS1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP687.RA_z1JjoRWC5Nvko3HYSOmHEEZDgvgdKw7qY-spQmYToo130_provenance.
- NP688.RA-PbH8QVMHSSsFrHoeeVCV20AJ-k_A9rQuMJBAdvc9ks130_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." NP688.RA-PbH8QVMHSSsFrHoeeVCV20AJ-k_A9rQuMJBAdvc9ks130_provenance.
- NP691.RAxKNIfGYxJzXNfuM73WfgfSFGyfpMJ0_YZEEzOCxaB_A130_assertion description "[Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP691.RAxKNIfGYxJzXNfuM73WfgfSFGyfpMJ0_YZEEzOCxaB_A130_provenance.
- NP697.RA_-nTd5YpGa_IFkweU6Ttgj7L7yNshgeN4V2rxftsAs0130_assertion description "[Identification of a point mutation associated with a silent phenotype of human serum butyrylcholinesterase--a case of familial cholinesterasemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP697.RA_-nTd5YpGa_IFkweU6Ttgj7L7yNshgeN4V2rxftsAs0130_provenance.
- NP698.RA13YayNTRL-vl-yvJ6kw0PE1objI11w90be-QhTpKp34130_assertion description "[Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP698.RA13YayNTRL-vl-yvJ6kw0PE1objI11w90be-QhTpKp34130_provenance.
- NP700.RA6sYhOFs58CQezA8wBzDiyQfxRArkVtDUmvY7N1W2qt0130_assertion description "[Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP700.RA6sYhOFs58CQezA8wBzDiyQfxRArkVtDUmvY7N1W2qt0130_provenance.
- NP708.RA7ho21ZpYoFCXjosEuRpB1CdBkLOOLaJO_E7ubtWPvzo130_assertion description "[Loss-of-function mutation in carotenoid 15,15'-monooxygenase identified in a patient with hypercarotenemia and hypovitaminosis A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP708.RA7ho21ZpYoFCXjosEuRpB1CdBkLOOLaJO_E7ubtWPvzo130_provenance.
- NP709.RA8vaKnEAPQZC5UKPq0Vy3RlvznLYqaeDnEAfuTptNW88130_assertion description "[Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP709.RA8vaKnEAPQZC5UKPq0Vy3RlvznLYqaeDnEAfuTptNW88130_provenance.
- NP710.RAxOVaE1QgrwHMrqC7sP-nJOCS2S09O3AeU9Wht5TTHdQ130_assertion description "[Missense mutations in the BCS1L gene as a cause of the Bjrnstad syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP710.RAxOVaE1QgrwHMrqC7sP-nJOCS2S09O3AeU9Wht5TTHdQ130_provenance.
- NP716.RA13ufjabSUX9LIGSjma7nsfsp6CtrQCetMnIR_6nmfAE130_assertion description "[The objective of this study was to determine the frequency of BDNF mutations among 19 children with CCHS (five with HSCR) compared to 40 unaffected unrelated controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP716.RA13ufjabSUX9LIGSjma7nsfsp6CtrQCetMnIR_6nmfAE130_provenance.
- NP725.RA6iATQJtRX3iD-_J1JYFx6SuxeflzpY0goDhm8Lp0TcE130_assertion description "[Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP725.RA6iATQJtRX3iD-_J1JYFx6SuxeflzpY0goDhm8Lp0TcE130_provenance.
- NP726.RA7Ob64cbShQgWav6RiRb9gSEbj6sIyzlbb0Wp_YKqNs8130_assertion description "[Mutations in the vitelliform macular dystrophy 2 (VMD2) gene encoding besrtophin are responsible for Best macular dystrophy (BMD), a juvenile-onset autosomal dominant disorder of the central retina.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP726.RA7Ob64cbShQgWav6RiRb9gSEbj6sIyzlbb0Wp_YKqNs8130_provenance.
- NP729.RA-kbbYpF_ACsBp7eMRpI3gtILfsp2d5G18TH7rU2Hwhw130_assertion description "[Identification of a novel VMD2 mutation in Japanese patients with Best disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP729.RA-kbbYpF_ACsBp7eMRpI3gtILfsp2d5G18TH7rU2Hwhw130_provenance.
- NP740.RA3lieWvWW4EeWBJvKVtTEmaqVFv1I4mLt-F99K18TR8s130_assertion description "[Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP740.RA3lieWvWW4EeWBJvKVtTEmaqVFv1I4mLt-F99K18TR8s130_provenance.
- NP747.RA-5NXUItfBUokg5gWwrjlPW5TjjrCJmQdaNOcVkWVIFQ130_assertion description "[BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP747.RA-5NXUItfBUokg5gWwrjlPW5TjjrCJmQdaNOcVkWVIFQ130_provenance.
- NP748.RA1qD_FCx0bTRryQllB6gbosFM8PsHdh5Yw-hhkIL1IZM130_assertion description "[Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP748.RA1qD_FCx0bTRryQllB6gbosFM8PsHdh5Yw-hhkIL1IZM130_provenance.
- NP749.RA7QWTMhsC2NUIKVg_YVXJ2x6xPQfxN4939iOC7na13HY130_assertion description "[Patients with germline SMAD4 or BMPR1A mutations have a more prominent JP phenotype than those without, and SMAD4 mutations predispose to UGI polyposis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP749.RA7QWTMhsC2NUIKVg_YVXJ2x6xPQfxN4939iOC7na13HY130_provenance.
- NP751.RA6Q6qbI4iYwJJNDeNSGlQM-xK-2vTAEVZ0iNl4LU2D5A130_assertion description "[Patterns of somatic mutation in human cancer genomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP751.RA6Q6qbI4iYwJJNDeNSGlQM-xK-2vTAEVZ0iNl4LU2D5A130_provenance.
- NP755.RA6iS_WJ7xotsyqbklSy5RvGQqPCYNjppSz4lOQWv4N5k130_assertion description "[Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP755.RA6iS_WJ7xotsyqbklSy5RvGQqPCYNjppSz4lOQWv4N5k130_provenance.
- NP756.RA3sGmJcYfWGl9x0dJ12QFPlPL5k2aIjGHhAZ8y8oqbNw130_assertion description "[Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP756.RA3sGmJcYfWGl9x0dJ12QFPlPL5k2aIjGHhAZ8y8oqbNw130_provenance.
- NP757.RA9SmdM-ieSZ6FaNR43gZosQpPRR5IpuxsptKGSgJFxqQ130_assertion description "[BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP757.RA9SmdM-ieSZ6FaNR43gZosQpPRR5IpuxsptKGSgJFxqQ130_provenance.
- NP760.RA1eeE93ITmcMNAMn23wbtLFCY73HhXp-U_n32mA00rUE130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP760.RA1eeE93ITmcMNAMn23wbtLFCY73HhXp-U_n32mA00rUE130_provenance.
- NP762.RA6m4crRg9YhNIvYtmD2wEY9LWYxqdxmbf3eP_m9po4bs130_assertion description "[Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP762.RA6m4crRg9YhNIvYtmD2wEY9LWYxqdxmbf3eP_m9po4bs130_provenance.
- NP765.RA8QD6_T0HbqQ1L4izrrrle2MuqXfp1aUXqYzHnDGPzOE130_assertion description "[Patterns of somatic mutation in human cancer genomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP765.RA8QD6_T0HbqQ1L4izrrrle2MuqXfp1aUXqYzHnDGPzOE130_provenance.
- NP767.RA9tEJZIEmLRtrHovFiLJ_MNLhmlm8b7LUwZSk5PNwLPo130_assertion description "[Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP767.RA9tEJZIEmLRtrHovFiLJ_MNLhmlm8b7LUwZSk5PNwLPo130_provenance.
- NP770.RAxHi0gFYG08-ubHHKbDhog8Dr_vXm7l_3-voptWnZnB0130_assertion description "[Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP770.RAxHi0gFYG08-ubHHKbDhog8Dr_vXm7l_3-voptWnZnB0130_provenance.
- NP771.RA6pcuZKAh_zwNbObEY6rTxQ5-4cnRhIBHMmXGGLpWyu8130_assertion description "[Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP771.RA6pcuZKAh_zwNbObEY6rTxQ5-4cnRhIBHMmXGGLpWyu8130_provenance.
- NP778.RA6wIViyW1iRqgJShwIxpyG-Bw0bIdVx9xkjXzNwFHDsA130_assertion description "[Mutations in the BRCA1 gene in Japanese breast cancer patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP778.RA6wIViyW1iRqgJShwIxpyG-Bw0bIdVx9xkjXzNwFHDsA130_provenance.
- NP779.RAxyB_TfGkljTyDtEnz6VSaiCC5iCyCN7ssjAPVHFtMXs130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP779.RAxyB_TfGkljTyDtEnz6VSaiCC5iCyCN7ssjAPVHFtMXs130_provenance.
- NP783.RAx-f-5DEeURxAl2bR8pagFP0nudk1H2ndZtiRpaIhMsQ130_assertion description "[BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP783.RAx-f-5DEeURxAl2bR8pagFP0nudk1H2ndZtiRpaIhMsQ130_provenance.
- NP786.RA_69xF9P6ETDmPie1hRV_eZz8H6mXcT_kxT9dWgd2DO0130_assertion description "[Mutation screening of the breast and ovarian cancer-predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP786.RA_69xF9P6ETDmPie1hRV_eZz8H6mXcT_kxT9dWgd2DO0130_provenance.
- NP794.RAz8jSn-5ZospcuJeElcpYwc5fcnegF0M8quMBx2hU6iI130_assertion description "[We analysed by direct sequencing the BRCA2 gene in 29 breast cancer patients derived from 29 families with an aggregation of at least one female breast cancer diagnosed before the age of 50 years and one male stomach cancer diagnosed before the age of 55 years.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP794.RAz8jSn-5ZospcuJeElcpYwc5fcnegF0M8quMBx2hU6iI130_provenance.
- NP795.RAyJAK4MjRt--M2V59TkshldAfuEf5kIHndpcA1JorLgI130_assertion description "[Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP795.RAyJAK4MjRt--M2V59TkshldAfuEf5kIHndpcA1JorLgI130_provenance.
- NP796.RA2I9EnCV0XjNthGsH3CZCFQuLQasKhpW1JCKMxL8on14130_assertion description "[An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP796.RA2I9EnCV0XjNthGsH3CZCFQuLQasKhpW1JCKMxL8on14130_provenance.
- NP797.RA1dzSkCXZOqMm0UeU7TTc5gCqL1xnzgSjgyIbPxteaFU130_assertion description "[BRCA2 germline mutations in male breast cancer patients in the Polish population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP797.RA1dzSkCXZOqMm0UeU7TTc5gCqL1xnzgSjgyIbPxteaFU130_provenance.
- NP808.RA_IGVaKwNBnLq_J5khrYpvzsOkFfUYc9L2TAmRUnzzxE130_assertion description "[Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of adipose tissue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP808.RA_IGVaKwNBnLq_J5khrYpvzsOkFfUYc9L2TAmRUnzzxE130_provenance.
- NP816.RA6GhlLHwl2qsSGoe0wIQwNy8pgKmgd24kuMQ2pV3injU130_assertion description "[In 1993, two groups showed that X-linked agammaglobulinemia (XLA) was due to mutations in a tyrosine kinase now called Btk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP816.RA6GhlLHwl2qsSGoe0wIQwNy8pgKmgd24kuMQ2pV3injU130_provenance.
- NP817.RAzuEKOxitw-JXjmI1PTybnvt7DCMVqWzt5x193eTJip4130_assertion description "[Mutations in Bruton's tyrosine kinase (Btk) belonging to the Tec family cause X-linked agammaglobulinemia (XLA) due to developmental arrest of B cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP817.RAzuEKOxitw-JXjmI1PTybnvt7DCMVqWzt5x193eTJip4130_provenance.
- NP823.RA_Ftowahbbncn2FHviVbMVz2mmcY34TQ_CQS3EfDCUQY130_assertion description "[The defective gene responsible for the recessively inherited immunodeficiency X-linked agammaglobulinemia (XLA) has been shown to encode a cytoplasmic protein tyrosine kinase of the Src family designated Btk (Bruton's tyrosine kinase).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP823.RA_Ftowahbbncn2FHviVbMVz2mmcY34TQ_CQS3EfDCUQY130_provenance.
- NP835.RA3IEinY3wGRxE25QqhP4b4OFdWl_mp70YU1zl-pHa0Ro130_assertion description "[A novel type II complement C2 deficiency allele in an African-American family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP835.RA3IEinY3wGRxE25QqhP4b4OFdWl_mp70YU1zl-pHa0Ro130_provenance.
- NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_assertion description "[Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_provenance.
- NP838.RA6jJ4RukhTgkaNYC3s6iIlDPLLA-j6VPZoK9EqVyHEnA130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP838.RA6jJ4RukhTgkaNYC3s6iIlDPLLA-j6VPZoK9EqVyHEnA130_provenance.
- NP842.RAwn5CvCR-5yu5Cb2S_7pftGlr3FWecSKf9B8nio4InTw130_assertion description "[Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP842.RAwn5CvCR-5yu5Cb2S_7pftGlr3FWecSKf9B8nio4InTw130_provenance.
- NP843.RA-eB0aHMuDTyQ6_yKBvN9Jzz4QOi03Hs88mSSzJuqOjo130_assertion description "[Molecular bases of C7 deficiency: three different defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP843.RA-eB0aHMuDTyQ6_yKBvN9Jzz4QOi03Hs88mSSzJuqOjo130_provenance.
- NP844.RAxldEAiDOjyaeG0fl9ymRgeDQylVuVsGSNfQbXSWo6us130_assertion description "[Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP844.RAxldEAiDOjyaeG0fl9ymRgeDQylVuVsGSNfQbXSWo6us130_provenance.
- NP849.RAxtLPbDbT2wjjbch8DNnSUmwZ_QrcjS4NMtiDTBXuaqg130_assertion description "[Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP849.RAxtLPbDbT2wjjbch8DNnSUmwZ_QrcjS4NMtiDTBXuaqg130_provenance.
- NP854.RA1OyLp_GP18uUctz9XaBtjs2LUpdpV_X4g89vtQzrps8130_assertion description "[The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP854.RA1OyLp_GP18uUctz9XaBtjs2LUpdpV_X4g89vtQzrps8130_provenance.
- NP856.RA7fHpH4cbd_QofK7A9k9l6RCkOWbOjXvKRE0JFegUMg4130_assertion description "[Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in more than two independent families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP856.RA7fHpH4cbd_QofK7A9k9l6RCkOWbOjXvKRE0JFegUMg4130_provenance.
- NP858.RA1YiiQ4O5NGpNLjodfn6xuoo3E0aAnPfuP3B1fhPif_w130_assertion description "[New mutation of CACNA1A gene in episodic ataxia type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP858.RA1YiiQ4O5NGpNLjodfn6xuoo3E0aAnPfuP3B1fhPif_w130_provenance.
- NP859.RAw8m6s2H-jUObzNrZ2fVUnUMWB4ID8XSSPbx5LUNoU7Q130_assertion description "[Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP859.RAw8m6s2H-jUObzNrZ2fVUnUMWB4ID8XSSPbx5LUNoU7Q130_provenance.
- NP882.RA1zBBlkp3Q7OoBcn3c9nTIfC5DYx9LDDQI6FfGWxrhWc130_assertion description "[Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP882.RA1zBBlkp3Q7OoBcn3c9nTIfC5DYx9LDDQI6FfGWxrhWc130_provenance.
- NP883.RAxpHgLNwc33ZgrzrGZdkitDHGP1EKRUDJ5X8q35-ckT8130_assertion description "[Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP883.RAxpHgLNwc33ZgrzrGZdkitDHGP1EKRUDJ5X8q35-ckT8130_provenance.
- NP885.RAxCbQ3rPVgRiKwUB_id8VCxX2DEV8TgdJ9DKIo6vKnzE130_assertion description "[Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP885.RAxCbQ3rPVgRiKwUB_id8VCxX2DEV8TgdJ9DKIo6vKnzE130_provenance.
- NP886.RA3mAAo5vuG1YzyhSrUTtt3coOaqAPBNa6JVnQ3Q-r2Fo130_assertion description "[Identification of CANT1 mutations in Desbuquois dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP886.RA3mAAo5vuG1YzyhSrUTtt3coOaqAPBNa6JVnQ3Q-r2Fo130_provenance.
- NP890.RA4is4anbfDI3svDF3Dw_1ofPpUI7pYgxjOMEOGWR4rZU130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP890.RA4is4anbfDI3svDF3Dw_1ofPpUI7pYgxjOMEOGWR4rZU130_provenance.