SIFT: Predicting amino acid changes that affect protein function
about
Mutations 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) machineryExome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family studySystematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicineData integration workflow for search of disease driving genes and genetic variantsPhased whole-genome genetic risk in a family quartet using a major allele reference sequenceNo evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeEnrichment of sequencing targets from the human genome by solution hybridizationPredicting the effects of frameshifting indelsMutation screening of melatonin-related genes in patients with autism spectrum disordersThe FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiencyEvaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent changeComparative genomics of closely related Salmonella enterica serovar Typhi strains reveals genome dynamics and the acquisition of novel pathogenic elementsThe genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wildSequencing and analysis of a South Asian-Indian personal genomeXRate: a fast prototyping, training and annotation tool for phylo-grammarsAnalyzing effects of naturally occurring missense mutationsClimbing Mount Probable: Mutation as a Cause of Nonrandomness in EvolutionAn integrated view of protein evolutionPersonalized medicine: hope or hype?Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesiaBone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator functionTM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet contentKLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephronMutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairSequence variants in SLC16A11 are a common risk factor for type 2 diabetes in MexicoTINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromesBMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasiaMutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentHuman liver cell trafficking mutants: characterization and whole exome sequencingSurvey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndromeHeterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceFunctional polymorphism of the CK2alpha intronless gene plays oncogenic roles in lung cancerPolymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophreniaPOT1 loss-of-function variants predispose to familial melanomaNMNAT1 mutations cause Leber congenital amaurosisGermline mutations in BAP1 predispose to melanocytic tumorsCore signaling pathways in human pancreatic cancers revealed by global genomic analysesExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
P2860
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P2860
SIFT: Predicting amino acid changes that affect protein function
description
2003 nî lūn-bûn
@nan
2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
SIFT: Predicting amino acid changes that affect protein function
@ast
SIFT: Predicting amino acid changes that affect protein function
@en
type
label
SIFT: Predicting amino acid changes that affect protein function
@ast
SIFT: Predicting amino acid changes that affect protein function
@en
prefLabel
SIFT: Predicting amino acid changes that affect protein function
@ast
SIFT: Predicting amino acid changes that affect protein function
@en
P2860
P3181
P356
P1476
SIFT: Predicting amino acid changes that affect protein function
@en
P2093
P2860
P304
P3181
P356
10.1093/NAR/GKG509
P407
P577
2003-07-01T00:00:00Z