Nanopublications LDF server

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

• NP5213.RA8tmss5kZSaIbLD9BFZyPENQndnXbBpjDPxbwj61D7JI130_assertion description "[Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5213.RA8tmss5kZSaIbLD9BFZyPENQndnXbBpjDPxbwj61D7JI130_provenance.
• NP5222.RA2gm3d1u-g3Y1jui7dxcaRivCYB0ee85yLKkRIreAORg130_assertion description "[A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5222.RA2gm3d1u-g3Y1jui7dxcaRivCYB0ee85yLKkRIreAORg130_provenance.
• NP5224.RA5rx2fDgL3W0_m7qigJ4XAK-uDrPyIqH3WxsxirQkJU0130_assertion description "[New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5224.RA5rx2fDgL3W0_m7qigJ4XAK-uDrPyIqH3WxsxirQkJU0130_provenance.
• NP5226.RAxnvcSDx5n1hVbEP0AFVxtYI-WoTSfSArKmfu3D80ugo130_assertion description "[Six different point mutations in seven Danish families with symptomatic protein C deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5226.RAxnvcSDx5n1hVbEP0AFVxtYI-WoTSfSArKmfu3D80ugo130_provenance.
• NP5233.RAz1ul8viSc_EWe4dhRHn3oL8BbDnC4eyMjL5pHb6yA9U130_assertion description "[Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5233.RAz1ul8viSc_EWe4dhRHn3oL8BbDnC4eyMjL5pHb6yA9U130_provenance.
• NP5239.RA2dNQnneChN2BNRfINGNenps5uAuP24tKg-eweCAjDKg130_assertion description "[Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5239.RA2dNQnneChN2BNRfINGNenps5uAuP24tKg-eweCAjDKg130_provenance.
• NP5241.RA-xAk1Br8idhVsQ_6KSot3Yd09hxPYtWdHdkhlTpFSSU130_assertion description "[Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5241.RA-xAk1Br8idhVsQ_6KSot3Yd09hxPYtWdHdkhlTpFSSU130_provenance.
• NP5242.RA37aG3yNMjT2KutZvGEKM_YX0OVDL6nOVda-w9QtSWTc130_assertion description "[Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5242.RA37aG3yNMjT2KutZvGEKM_YX0OVDL6nOVda-w9QtSWTc130_provenance.
• NP5247.RA_cQAyud4FNnFLd1PB2BBwyTx4cUwIF33Nh8g9YM895E130_assertion description "[Mutations in PROP1 cause familial combined pituitary hormone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5247.RA_cQAyud4FNnFLd1PB2BBwyTx4cUwIF33Nh8g9YM895E130_provenance.
• NP5256.RA5Jv-hczXhoUvXQjYs_2gLM_XID7Q4mIXsZ7JbGjRRD0130_assertion description "[Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5256.RA5Jv-hczXhoUvXQjYs_2gLM_XID7Q4mIXsZ7JbGjRRD0130_provenance.
• NP5260.RA5HNizuFQDrvIMzM_vyc_CThQMmUv9v0DxGbmIv0Iw34130_assertion description "[DNA sequence analysis of protein S deficiency--identification of four point mutations in twelve Japanese subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5260.RA5HNizuFQDrvIMzM_vyc_CThQMmUv9v0DxGbmIv0Iw34130_provenance.
• NP5267.RA6s_b0BnG97XhypRdONjYuQ1i_F5zVhH2GeRg4DrRfns130_assertion description "[A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5267.RA6s_b0BnG97XhypRdONjYuQ1i_F5zVhH2GeRg4DrRfns130_provenance.
• NP5268.RA0yzBgjASAbr5llZXQRlOeTPvqJiS3IgbA596Rpzimsk130_assertion description "[Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5268.RA0yzBgjASAbr5llZXQRlOeTPvqJiS3IgbA596Rpzimsk130_provenance.
• NP5269.RA5NyHLf5KCEneVaUK7F7aMp-wH9BBCNPwLO7DO5gwtBw130_assertion description "[Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5269.RA5NyHLf5KCEneVaUK7F7aMp-wH9BBCNPwLO7DO5gwtBw130_provenance.
• NP5275.RA-lkHQmvH56kvYqftPH4xppNlTPSgQ_QwkW3XQ_9o0oo130_assertion description "[Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5275.RA-lkHQmvH56kvYqftPH4xppNlTPSgQ_QwkW3XQ_9o0oo130_provenance.
• NP5276.RA-yPCgaz5PgTW5zgdDOLCIjAxia6V5ISzFK6RKmUTMAM130_assertion description "[Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5276.RA-yPCgaz5PgTW5zgdDOLCIjAxia6V5ISzFK6RKmUTMAM130_provenance.
• NP5277.RAzu30pKBeZgcpoHNnzyV6xgrKsn7ds4f0Pz6eLjLinNs130_assertion description "[A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5277.RAzu30pKBeZgcpoHNnzyV6xgrKsn7ds4f0Pz6eLjLinNs130_provenance.
• NP5279.RAxu15hLitdGlSe5U1anGiMsZDAvtYCi9VNjJmo2tz5m4130_assertion description "[Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5279.RAxu15hLitdGlSe5U1anGiMsZDAvtYCi9VNjJmo2tz5m4130_provenance.
• NP5284.RAya4lHEITsdVhTuzE-MdnaMgv0KHMS1rBEqDqwGJyqzE130_assertion description "[The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5284.RAya4lHEITsdVhTuzE-MdnaMgv0KHMS1rBEqDqwGJyqzE130_provenance.
• NP5290.RA9IWYcW1dObOZpgVAut9L3Y0OCe9_UiP8S5SvhlK_MtE130_assertion description "[Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5290.RA9IWYcW1dObOZpgVAut9L3Y0OCe9_UiP8S5SvhlK_MtE130_provenance.
• NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_assertion description "[We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5291.RA5CEd7yaVRvYsYx-MGmzpIrYDLUyW1j7GrCNcvH4WOvc130_provenance.
• NP5300.RA8eh3xDdUe_nZ3BgEa2jHMwxOdvlu0o0apCmBMR1EU3Y130_assertion description "[Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5300.RA8eh3xDdUe_nZ3BgEa2jHMwxOdvlu0o0apCmBMR1EU3Y130_provenance.
• NP5301.RA6pa90wCcXdVA_VErO2WQ30pGQ0SsCq1rNcUFKw7pAKQ130_assertion description "[Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5301.RA6pa90wCcXdVA_VErO2WQ30pGQ0SsCq1rNcUFKw7pAKQ130_provenance.
• NP5317.RAyw6Wb1EiF2mfPMMUWQkX8pqSi2QaxuNScsDU0zyuXJY130_assertion description "[A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5317.RAyw6Wb1EiF2mfPMMUWQkX8pqSi2QaxuNScsDU0zyuXJY130_provenance.
• NP5320.RA_Ac94fqfdqbPC15RH1-v7RJUVqcqwydXyD8mrKopnmg130_assertion description "[Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5320.RA_Ac94fqfdqbPC15RH1-v7RJUVqcqwydXyD8mrKopnmg130_provenance.
• NP5326.RA8nUAaHlsbfECJZj1fo__ddGLfARmnphtsaLApg-sH_U130_assertion description "[A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5326.RA8nUAaHlsbfECJZj1fo__ddGLfARmnphtsaLApg-sH_U130_provenance.
• NP5330.RA0tQGc1c4Bg3uJmjfMMCT0T_TB0YBPSzgkRq1MdAR-00130_assertion description "[Here, we report a mutation in the human proteasome subunit beta type 8 gene (PSMB8) that encodes the immunoproteasome subunit 5i in patients with NNS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5330.RA0tQGc1c4Bg3uJmjfMMCT0T_TB0YBPSzgkRq1MdAR-00130_provenance.
• NP5331.RAxvMTthMsAUcxyk6fNtrVE9rEwr2V_01FrGcnrXOedPg130_assertion description "[Mutations responsible for 3-phosphoserine phosphatase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5331.RAxvMTthMsAUcxyk6fNtrVE9rEwr2V_01FrGcnrXOedPg130_provenance.
• NP5332.RA-7iO-XJk_RptmO0o2q_uBc_mIqj8Sn2bOvzGpFS4p84130_assertion description "[Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5332.RA-7iO-XJk_RptmO0o2q_uBc_mIqj8Sn2bOvzGpFS4p84130_provenance.
• NP5333.RA480RQnFaiJTgkRfJClP7ivaNDGuz8VQYHAy7SwWOz6E130_assertion description "[Human homolog of patched, a candidate gene for the basal cell nevus syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5333.RA480RQnFaiJTgkRfJClP7ivaNDGuz8VQYHAy7SwWOz6E130_provenance.
• NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_assertion description "[In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_provenance.
• NP5340.RA3_AcgCi091io8cOsGCSgl347OdVDocofJU_IZ9pnXew130_assertion description "[Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5340.RA3_AcgCi091io8cOsGCSgl347OdVDocofJU_IZ9pnXew130_provenance.
• NP5342.RA5Lx0978kKcowrLf-xtQ-E413_8kL4mdH0THCaI0dPuE130_assertion description "[PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5342.RA5Lx0978kKcowrLf-xtQ-E413_8kL4mdH0THCaI0dPuE130_provenance.
• NP5343.RAxGiye-EJTohOGIkO10T2BTHNBFXBLPTwFgclWIFjbuA130_assertion description "[GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5343.RAxGiye-EJTohOGIkO10T2BTHNBFXBLPTwFgclWIFjbuA130_provenance.
• NP5344.RAzwkg7JJoohpoBERe3OjG2jdp3dyLwiSDiYM04ITB3v0130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5344.RAzwkg7JJoohpoBERe3OjG2jdp3dyLwiSDiYM04ITB3v0130_provenance.
• NP5351.RAxOBilRh4Bb76dn1s_X7UDDrkjodkUZ-i9ChpQYRWgzE130_assertion description "[Germline PTEN mutations in Cowden syndrome-like families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5351.RAxOBilRh4Bb76dn1s_X7UDDrkjodkUZ-i9ChpQYRWgzE130_provenance.
• NP5359.RAyKLvZcuBc10SoIFqWTfOOZhIWSnV47Xmaz2dLo0bI5w130_assertion description "[Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5359.RAyKLvZcuBc10SoIFqWTfOOZhIWSnV47Xmaz2dLo0bI5w130_provenance.
• NP5362.RAzL7jajSd7uCWX-oPzAlaaLAGIORPgVTOFC2IkhRHdfo130_assertion description "[A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5362.RAzL7jajSd7uCWX-oPzAlaaLAGIORPgVTOFC2IkhRHdfo130_provenance.
• NP5363.RA3-ncrDuK6BcXSs2IdLUN2urHI8MYo9xlUpnM-FvpR8M130_assertion description "[Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5363.RA3-ncrDuK6BcXSs2IdLUN2urHI8MYo9xlUpnM-FvpR8M130_provenance.
• NP5364.RA_qZdHcJyAuj8795H3cTe8p120W5bnd2TfOWMj_X-C10130_assertion description "[Deletion and point mutations of PTHLH cause brachydactyly type E.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5364.RA_qZdHcJyAuj8795H3cTe8p120W5bnd2TfOWMj_X-C10130_provenance.
• NP5367.RA2Vc4sSwXfrTfTqbIoUjtUI_dVHouRVM9YazZtK1NDeI130_assertion description "[Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5367.RA2Vc4sSwXfrTfTqbIoUjtUI_dVHouRVM9YazZtK1NDeI130_provenance.
• NP5371.RA-zQAqTit0LEjH1ZS5rrI_LkAsv_YOzXnDT9nYIkgEKE130_assertion description "[Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5371.RA-zQAqTit0LEjH1ZS5rrI_LkAsv_YOzXnDT9nYIkgEKE130_provenance.
• NP5372.RA50DCjEz_dPit2zwoYKL057WIF40ajm5ZODQHicQJYzY130_assertion description "[PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5372.RA50DCjEz_dPit2zwoYKL057WIF40ajm5ZODQHicQJYzY130_provenance.
• NP5379.RA1pjaRQLCc2U6Ivf6Udgf_aNrHlibdH7LSWkxQ0IpMZ4130_assertion description "[Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5379.RA1pjaRQLCc2U6Ivf6Udgf_aNrHlibdH7LSWkxQ0IpMZ4130_provenance.
• NP5380.RA2SEVR4AY5dLqstmbZziiLRQVwMD4y8eAazJr3JfYG6I130_assertion description "[Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5380.RA2SEVR4AY5dLqstmbZziiLRQVwMD4y8eAazJr3JfYG6I130_provenance.
• NP5383.RA0gduXG9TNgnICnFBeEDGes1SEhGeKKgdP4Rbs8F52lk130_assertion description "[Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5383.RA0gduXG9TNgnICnFBeEDGes1SEhGeKKgdP4Rbs8F52lk130_provenance.
• NP5397.RA4Y_2dqdU28dNM7xTBmB7NKyGIU3abVzTiPmbEg_joTw130_assertion description "[Mutations in PYCR1 cause cutis laxa with progeroid features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5397.RA4Y_2dqdU28dNM7xTBmB7NKyGIU3abVzTiPmbEg_joTw130_provenance.
• NP5398.RA-BezP5AI1KWc_fLTIoiJcJXlOus4sk93fhSsLIumNEY130_assertion description "[Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5398.RA-BezP5AI1KWc_fLTIoiJcJXlOus4sk93fhSsLIumNEY130_provenance.
• NP5399.RA8PqhUbMAIix9ckax9pjTSLFX_MRLgphEC5V-6fQo9Hg130_assertion description "[We report the identification of the first mutations in PYGL, the gene encoding the liver isoform of glycogen phosphorylase, in three patients with Hers disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5399.RA8PqhUbMAIix9ckax9pjTSLFX_MRLgphEC5V-6fQo9Hg130_provenance.
• NP5405.RA2EtQlyrnFfLtRqikpqdItftoMWJYI19fRhi-gTfuFyM130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5405.RA2EtQlyrnFfLtRqikpqdItftoMWJYI19fRhi-gTfuFyM130_provenance.
• NP5407.RA080rjLwbW0VGD-DIOeYH195aN0XNS_C9PvD35uTfZ18130_assertion description "[Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5407.RA080rjLwbW0VGD-DIOeYH195aN0XNS_C9PvD35uTfZ18130_provenance.
• NP5414.RA8UnqeIbviCCy8qPjWbsY5lUSaJflHhbc8gDJoc-F71I130_assertion description "[Here, we report a novel RAB33B mutation in a second SMC case that leads to a marked reduction of the protein as shown by Western blot and immunofluorescence.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5414.RA8UnqeIbviCCy8qPjWbsY5lUSaJflHhbc8gDJoc-F71I130_provenance.
• NP5417.RA4WeB8PssQFMqbKDAdwBS2TW7J11xuKDD1XajHMVMdVs130_assertion description "[Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5417.RA4WeB8PssQFMqbKDAdwBS2TW7J11xuKDD1XajHMVMdVs130_provenance.
• NP5418.RAxFSRF5zso3tjjbJJMtY2FNRoOYIhslcYEOQFH3rl_2Y130_assertion description "[Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5418.RAxFSRF5zso3tjjbJJMtY2FNRoOYIhslcYEOQFH3rl_2Y130_provenance.
• NP5430.RA6IvQmriWIee9LpwFbdgbiNdd6UrDf_OS7itxHZIv-fQ130_assertion description "[An immunodeficiency disease with RAG mutations and granulomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5430.RA6IvQmriWIee9LpwFbdgbiNdd6UrDf_OS7itxHZIv-fQ130_provenance.
• NP5440.RA4sb_xXoIP0B1pPuDaLT8b8KNA1YTyCuLgFtDfNNnwkU130_assertion description "[Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5440.RA4sb_xXoIP0B1pPuDaLT8b8KNA1YTyCuLgFtDfNNnwkU130_provenance.
• NP5441.RAzY-1byi_LrFcHk96ge_otRbPsKVv14TNg2VITbbjzhU130_assertion description "[Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5441.RAzY-1byi_LrFcHk96ge_otRbPsKVv14TNg2VITbbjzhU130_provenance.
• NP5444.RA0Vcn9NWHLwbt8n3K-C2iq7wqEJtlSBRZ4CHusJsPNj8130_assertion description "[Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5444.RA0Vcn9NWHLwbt8n3K-C2iq7wqEJtlSBRZ4CHusJsPNj8130_provenance.
• NP5447.RA41g9PdMuLFtkh4d7XzQluzCQuR2S30sOwpI0Gnfl5io130_assertion description "[Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5447.RA41g9PdMuLFtkh4d7XzQluzCQuR2S30sOwpI0Gnfl5io130_provenance.
• NP5448.RA5SMojiFv_YV5dsv92Wj1fEikZQAHXxSJ6BGWFyxq29s130_assertion description "[Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5448.RA5SMojiFv_YV5dsv92Wj1fEikZQAHXxSJ6BGWFyxq29s130_provenance.
• NP5452.RAxuYLVACXvznM6Fp9E5yxN3CwykHBSJcHdZyRuYOqvxU130_assertion description "[Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5452.RAxuYLVACXvznM6Fp9E5yxN3CwykHBSJcHdZyRuYOqvxU130_provenance.
• NP5454.RA0ap0VjbqJT5g2KDrNaFsCAmo30KBvpmoJE7Wga93S-A130_assertion description "[Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5454.RA0ap0VjbqJT5g2KDrNaFsCAmo30KBvpmoJE7Wga93S-A130_provenance.
• NP5460.RA_tSKSpU0Pj-nLJ5eiZC1G6LBXl2IRd48ozafCiBnwu4130_assertion description "[Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5460.RA_tSKSpU0Pj-nLJ5eiZC1G6LBXl2IRd48ozafCiBnwu4130_provenance.
• NP5461.RA_UB3rcS3nAhn8ZPluwevD0LZFFfdUpV-zwZYb0PHFvQ130_assertion description "[RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5461.RA_UB3rcS3nAhn8ZPluwevD0LZFFfdUpV-zwZYb0PHFvQ130_provenance.
• NP5463.RA1uFcfTm6eQv6XjeYWJWdMX7i_yhBrBtD_sCdEbyUVXs130_assertion description "[Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5463.RA1uFcfTm6eQv6XjeYWJWdMX7i_yhBrBtD_sCdEbyUVXs130_provenance.
• NP5479.RA7yXnfqobueHnqgI99kbH4wJNDIxgo-2HY4yiqsQRIto130_assertion description "[REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5479.RA7yXnfqobueHnqgI99kbH4wJNDIxgo-2HY4yiqsQRIto130_provenance.
• NP5480.RA-hAeJn1s6sYz1lQwGkXcKVdPvbg3YXVLAARKswKTnSo130_assertion description "[Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5480.RA-hAeJn1s6sYz1lQwGkXcKVdPvbg3YXVLAARKswKTnSo130_provenance.
• NP5484.RAxSTomlYtggNQzUwioZ60dYeLaZ4wpV-cSRx3a7fm8kY130_assertion description "[Germ-line mutations in nonsyndromic pheochromocytoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5484.RAxSTomlYtggNQzUwioZ60dYeLaZ4wpV-cSRx3a7fm8kY130_provenance.
• NP5485.RA7GhRPIYNC8tzIW1uBAKJDlaCsrrCpVIeKRS0TcgVWas130_assertion description "[A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5485.RA7GhRPIYNC8tzIW1uBAKJDlaCsrrCpVIeKRS0TcgVWas130_provenance.
• NP5489.RAyE_o5_yZCL62HT05zetnolOjhFS1Tm_-ucUiQJ8NMa4130_assertion description "[Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5489.RAyE_o5_yZCL62HT05zetnolOjhFS1Tm_-ucUiQJ8NMa4130_provenance.
• NP5491.RAzTgymaxs3fR35XY67qNpzkYwC5dYwIdw4Yovf6DJjqI130_assertion description "[Frequency of RET mutations in long- and short-segment Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5491.RAzTgymaxs3fR35XY67qNpzkYwC5dYwIdw4Yovf6DJjqI130_provenance.
• NP5494.RAy-WIEe-I_dtLIRGji2OUjv7trfVMWwjEpApZaSPiDMY130_assertion description "[Germ-line mutations in nonsyndromic pheochromocytoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5494.RAy-WIEe-I_dtLIRGji2OUjv7trfVMWwjEpApZaSPiDMY130_provenance.
• NP5497.RA4lHl7qSZ7qvEmJx5DOifaAtXLCScEznjAaW0Ohk5ePM130_assertion description "[Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5497.RA4lHl7qSZ7qvEmJx5DOifaAtXLCScEznjAaW0Ohk5ePM130_provenance.
• NP5504.RA1afyHPJ83ETavKfFd6JD5QU4q1B-CvKuvHGdcEf7ItQ130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5504.RA1afyHPJ83ETavKfFd6JD5QU4q1B-CvKuvHGdcEf7ItQ130_provenance.
• NP5505.RA4uX0v7x3RQM536J3LkGmnUi_ufFw9yOUfogH9Gp_L2Y130_assertion description "[Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5505.RA4uX0v7x3RQM536J3LkGmnUi_ufFw9yOUfogH9Gp_L2Y130_provenance.
• NP5523.RA4ll5iXIvpvNcBwRp9AW5x8CK6R6krJAWAX3SZfqUJVc130_assertion description "[Fibroblasts derived from two recently identified bare lymphocyte syndrome patients, EBA and FZA, were found to contain novel mutations in the RFX-B gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5523.RA4ll5iXIvpvNcBwRp9AW5x8CK6R6krJAWAX3SZfqUJVc130_provenance.
• NP5527.RA5zbMT2dwLxb5NfPGrQxmW65Gb-23ySHc-kL74NDcwQk130_assertion description "[Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5527.RA5zbMT2dwLxb5NfPGrQxmW65Gb-23ySHc-kL74NDcwQk130_provenance.
• NP5528.RA3gZDqiH83ne4ioNLZFQi4GHRNzkbxf9NQ2POqjnenmU130_assertion description "[Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5528.RA3gZDqiH83ne4ioNLZFQi4GHRNzkbxf9NQ2POqjnenmU130_provenance.
• NP5536.RA1wx0lN0Wqg8oXx-djY4MH3glxFbws16WIYVp3Blddn0130_assertion description "[Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5536.RA1wx0lN0Wqg8oXx-djY4MH3glxFbws16WIYVp3Blddn0130_provenance.
• NP5537.RA3oQKwuIMWEy0tYl_Iv07y_bNDtwOEnZqTwcRtwV2T-8130_assertion description "[Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5537.RA3oQKwuIMWEy0tYl_Iv07y_bNDtwOEnZqTwcRtwV2T-8130_provenance.
• NP5539.RA-F2TmxoKUQmKB2Ba49k2AdqpZ294czyyQ7n01HtCxxA130_assertion description "[Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5539.RA-F2TmxoKUQmKB2Ba49k2AdqpZ294czyyQ7n01HtCxxA130_provenance.
• NP5543.RA0JMTz41rutK4eAZsRlsxOelBsVIw_amxxOlBq0cRk0w130_assertion description "[Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5543.RA0JMTz41rutK4eAZsRlsxOelBsVIw_amxxOlBq0cRk0w130_provenance.
• NP5544.RAwgXAmmks1dq7jdBp8UPOhiYwMNVuliydGIwybKlXkG4130_assertion description "[Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5544.RAwgXAmmks1dq7jdBp8UPOhiYwMNVuliydGIwybKlXkG4130_provenance.
• NP5546.RA3ALJBj8MZzAL7Igmzhl2Ab-KPFpJ_7Oskf8gl_KjjE0130_assertion description "[Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5546.RA3ALJBj8MZzAL7Igmzhl2Ab-KPFpJ_7Oskf8gl_KjjE0130_provenance.
• NP5547.RA1fBOujliisB0l-ppRuLAsimw2lTmR3nTM5qdYYz_Otk130_assertion description "[Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5547.RA1fBOujliisB0l-ppRuLAsimw2lTmR3nTM5qdYYz_Otk130_provenance.
• NP5551.RAxHGBNSSbylUfaSuehiCkD6YSz9HR-cCNIpmuqjhIAr0130_assertion description "[rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5551.RAxHGBNSSbylUfaSuehiCkD6YSz9HR-cCNIpmuqjhIAr0130_provenance.
• NP5552.RA5GeOuVhBv9YICX7PuavDmebA3M7IjeoPBjwOIEvqejQ130_assertion description "[Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5552.RA5GeOuVhBv9YICX7PuavDmebA3M7IjeoPBjwOIEvqejQ130_provenance.
• NP5555.RA5KdP0b5XWqPifSStt5UOXd3G6ilxBqR05D09_prXXOc130_assertion description "[Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5555.RA5KdP0b5XWqPifSStt5UOXd3G6ilxBqR05D09_prXXOc130_provenance.
• NP5563.RA3GlqfTBSr3r9S1NO657CwRgQyMWUpX3uurnesENkt04130_assertion description "[RP1 protein truncating mutations predominate at the RP1 adRP locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5563.RA3GlqfTBSr3r9S1NO657CwRgQyMWUpX3uurnesENkt04130_provenance.
• NP5565.RA65nPksRqEJZk03YlwJPluJ6Ic83CRxBu0nh3EwVk7AI130_assertion description "[Differential pattern of RP1 mutations in retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5565.RA65nPksRqEJZk03YlwJPluJ6Ic83CRxBu0nh3EwVk7AI130_provenance.
• NP5570.RA_xLu8kn0-EFJRst2kWYin8DxWY3Cb9w1WcqD6zPLJz0130_assertion description "[A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5570.RA_xLu8kn0-EFJRst2kWYin8DxWY3Cb9w1WcqD6zPLJz0130_provenance.
• NP5572.RA57vN22VLTUh-8PP2BVlXLyVlvhGUPCb2h5SO3qv-eaI130_assertion description "[RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5572.RA57vN22VLTUh-8PP2BVlXLyVlvhGUPCb2h5SO3qv-eaI130_provenance.
• NP5579.RAydo_EDjIKn4CxjWThuXUaOB41Pb5QcR3PZGDJzlTV4s130_assertion description "[Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5579.RAydo_EDjIKn4CxjWThuXUaOB41Pb5QcR3PZGDJzlTV4s130_provenance.
• NP5580.RAyZNlNQWH23XWhwcAcE3ront7V_BeGqEnlMVYHkXpEDM130_assertion description "[Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5580.RAyZNlNQWH23XWhwcAcE3ront7V_BeGqEnlMVYHkXpEDM130_provenance.
• NP5587.RAyKxIz4lKIXO-r_LjASShHg_wrcRTfXaObfhUCViA4bU130_assertion description "[Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5587.RAyKxIz4lKIXO-r_LjASShHg_wrcRTfXaObfhUCViA4bU130_provenance.
• NP5591.RA2fbGHJQTKjjVhoNzMkXXzl96Y2YxhmLTmu4BHjlBPoc130_assertion description "[Evaluation of genotype-phenotype associations in leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5591.RA2fbGHJQTKjjVhoNzMkXXzl96Y2YxhmLTmu4BHjlBPoc130_provenance.
• NP5603.RA8WilUbIwi0sUseFDiYQGZ5wJ73NX6xFayCBWIA8IvqA130_assertion description "[A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5603.RA8WilUbIwi0sUseFDiYQGZ5wJ73NX6xFayCBWIA8IvqA130_provenance.
• NP5608.RA5K_a62YDmWKo82YjUJJsUxPNnmXcGqZc-TnIfoJJTgg130_assertion description "[RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5608.RA5K_a62YDmWKo82YjUJJsUxPNnmXcGqZc-TnIfoJJTgg130_provenance.
• NP5611.RAwmczsEvbv121HDgl3I8qCmWDxzmZXMcF7Dvo0iutc8o130_assertion description "[Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5611.RAwmczsEvbv121HDgl3I8qCmWDxzmZXMcF7Dvo0iutc8o130_provenance.
• NP5616.RA9lZZ8O-V7bq1oBm_0dBl2c4QFIyppg1eKzjQw0kB2m4130_assertion description "[Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5616.RA9lZZ8O-V7bq1oBm_0dBl2c4QFIyppg1eKzjQw0kB2m4130_provenance.

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