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Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dogMutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophyA SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machineryNon-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolinPredicting the effects of frameshifting indelsEvaluation 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 immunodeficiencyA catalog of neutral and deleterious polymorphism in yeastWhole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessMutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndromeThe common marmoset genome provides insight into primate biology and evolutionExperimental selection of hypoxia-tolerant Drosophila melanogasterCrohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variationGenetic studies of body mass index yield new insights for obesity biologyNew mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleVAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland familiesTNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathyMutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeA gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defectsMutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesisMicrocephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitorsIdentification of FOXP2 truncation as a novel cause of developmental speech and language deficitsA high-coverage genome sequence from an archaic Denisovan individualMutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenanceA novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndromeNew loci associated with kidney function and chronic kidney diseaseGenome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetesNovel variants in human Aquaporin-4 reduce cellular water permeabilityA genetic variation map for chicken with 2.8 million single-nucleotide polymorphismsEvolutionary conservation predicts function of variants of the human organic cation transporter, OCT1Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, NevadaThe amino-acid mutational spectrum of human genetic diseaseDiscovery of induced point mutations in maize genes by TILLINGThe functional importance of disease-associated mutationSequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphismsnsSNPAnalyzer: identifying disease-associated nonsynonymous single nucleotide polymorphismsMutDB services: interactive structural analysis of mutation data.Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPsPupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposesComputational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
P2860
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P2860
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին 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
Predicting deleterious amino acid substitutions
@ast
Predicting deleterious amino acid substitutions
@en
Predicting deleterious amino acid substitutions
@en-gb
Predicting deleterious amino acid substitutions
@nl
type
label
Predicting deleterious amino acid substitutions
@ast
Predicting deleterious amino acid substitutions
@en
Predicting deleterious amino acid substitutions
@en-gb
Predicting deleterious amino acid substitutions
@nl
prefLabel
Predicting deleterious amino acid substitutions
@ast
Predicting deleterious amino acid substitutions
@en
Predicting deleterious amino acid substitutions
@en-gb
Predicting deleterious amino acid substitutions
@nl
P2860
P3181
P356
P1433
P1476
Predicting deleterious amino acid substitutions
@en
P2093
P2860
P304
P3181
P356
10.1101/GR.176601
P407
P577
2001-05-01T00:00:00Z