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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophyCardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsA genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selectionGenetic variation in an individual human exomePopulation history and natural selection shape patterns of genetic variation in 132 genesLIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious pubertyPrediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of studyEvaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predispositionScreening of functional and positional candidate genes in families with common variable immunodeficiencyAnalyzing effects of naturally occurring missense mutationsPolymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphomaMedical sequencing of candidate genes for nonsyndromic cleft lip and palateGenomic basis of aging and life-history evolution in Drosophila melanogasterPotential etiologic and functional implications of genome-wide association loci for human diseases and traitsAn integrated view of protein evolutionPersonalized medicine: hope or hype?SERPINA2 is a novel gene with a divergent function from SERPINA1VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland familiesBone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator functionMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeRecessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansA gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defectsMolecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndromeIdentification of FOXP2 truncation as a novel cause of developmental speech and language deficitsPolymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophreniaNMNAT1 mutations cause Leber congenital amaurosisGermline mutations in BAP1 predispose to melanocytic tumorsAn 18-kDa translocator protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathyMutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Clinical assessment incorporating a personal genomeDirect measure of the de novo mutation rate in autism and schizophrenia cohortsDe novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.Digenic mutations in severe congenital neutropeniaRare independent mutations in renal salt handling genes contribute to blood pressure variationA novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeMeta-analyses of genome-wide association studies identify multiple loci associated with pulmonary functionA mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseA dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvementAdvances in translational bioinformatics: computational approaches for the hunting of disease genes
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Human non-synonymous SNPs: server and survey
@ast
Human non-synonymous SNPs: server and survey
@en
type
label
Human non-synonymous SNPs: server and survey
@ast
Human non-synonymous SNPs: server and survey
@en
prefLabel
Human non-synonymous SNPs: server and survey
@ast
Human non-synonymous SNPs: server and survey
@en
P2860
P3181
P356
P1476
Human non-synonymous SNPs: server and survey
@en
P2093
Shamil Sunyaev
Vasily Ramensky
P2860
P304
P3181
P356
10.1093/NAR/GKF493
P407
P50
P577
2002-09-01T00:00:00Z