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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophyData integration workflow for search of disease driving genes and genetic variantsGenetic variation in an individual human exomePredicting the effects of frameshifting indelsPyCogent: a toolkit for making sense from sequence.Analyzing effects of naturally occurring missense mutationsA catalog of neutral and deleterious polymorphism in yeastMedical sequencing of candidate genes for nonsyndromic cleft lip and palateSelectionism and neutralism in molecular evolutionAssociation of gamma-aminobutyric acid A receptor α2 gene (GABRA2) with alcohol use disorderMutations in the gene that encodes the F-actin binding protein anillin cause FSGSA mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosaMolecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathyHeterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceExome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Targeted capture and massively parallel sequencing of 12 human exomesEvolution in health and medicine Sackler colloquium: Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenariansDe novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.Genotype-phenotype correlations in non-Finnish congenital nephrotic syndromeGenome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetesAdvances in translational bioinformatics: computational approaches for the hunting of disease genesModeling effects of human single nucleotide polymorphisms on protein-protein interactionsRefined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesContributions of PTCH gene variants to isolated cleft lip and palateThe amino-acid mutational spectrum of human genetic diseaseIdentification of functional SNPs in the 5-prime flanking sequences of human genesThe functional importance of disease-associated mutationSequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphismsLower rate of genomic variation identified in the trans-membrane domain of monoamine sub-class of Human G-Protein Coupled Receptors: the Human GPCR-DB DatabaseMutDB services: interactive structural analysis of mutation data.PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposesAccurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 geneCYP1B1-mediated Pathobiology of Primary Congenital GlaucomaGenetic polymorphisms of CASR and cancer risk: evidence from meta-analysis and HuGE reviewAnnotating individual human genomesComputational and statistical approaches to analyzing variants identified by exome sequencingCharacterization of the equine 2'-5' oligoadenylate synthetase 1 (OAS1) and ribonuclease L (RNASEL) innate immunity genesAnalysis of genetic variation and potential applications in genome-scale metabolic modelingHeterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with AnemiaRecent and ongoing selection in the human genome
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Prediction of deleterious human alleles
@ast
Prediction of deleterious human alleles
@en
type
label
Prediction of deleterious human alleles
@ast
Prediction of deleterious human alleles
@en
prefLabel
Prediction of deleterious human alleles
@ast
Prediction of deleterious human alleles
@en
P2093
P3181
P356
P1476
Prediction of deleterious human alleles
@en
P2093
P304
P3181
P356
10.1093/HMG/10.6.591
P407
P50
P577
2001-03-01T00:00:00Z