A method and server for predicting damaging missense mutations - Wikidata - awgldk - TriplyDB

A method and server for predicting damaging missense mutations

A method and server for predicting damaging missense mutations

http://www.wikidata.org/entity/Q27860835

about

The spectrum of SWI/SNF mutations, ubiquitous in human cancers A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs Systematic pharmacogenomics analysis of a Malay whole genome: proof of concept for personalized medicine Non-synonymous polymorphisms in the FCN1 gene determine ligand-binding ability and serum levels of M-ficolin Data integration workflow for search of disease driving genes and genetic variants FAM20A mutations can cause enamel-renal syndrome (ERS).Phased whole-genome genetic risk in a family quartet using a major allele reference sequence No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome Predicting the effects of frameshifting indels X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever Comparative genomics of closely related Salmonella enterica serovar Typhi strains reveals genome dynamics and the acquisition of novel pathogenic elements The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family Analyzing effects of naturally occurring missense mutations The common marmoset genome provides insight into primate biology and evolution Genomic legacy of the African cheetah, Acinonyx jubatus From mouse to human: evolutionary genomics analysis of human orthologs of essential genes Recombination affects accumulation of damaging and disease-associated mutations in human populations Minke whale genome and aquatic adaptation in cetaceans The tiger genome and comparative analysis with lion and snow leopard genomes Crohn's disease risk alleles on the NOD2 locus have been maintained by natural selection on standing variation TREM2 Variants in Alzheimer's Disease Genetic studies of body mass index yield new insights for obesity biology Improved exome prioritization of disease genes through cross-species phenotype comparison Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism SERPINA2 is a novel gene with a divergent function from SERPINA1 TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

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P2860

A method and server for predicting damaging missense mutations

http://www.wikidata.org/entity/Q27860835

description

2010 nî lūn-bûn

@nan

2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

A method and server for predicting damaging missense mutations

@ast

A method and server for predicting damaging missense mutations

@en

A method and server for predicting damaging missense mutations

@nl

type

label

A method and server for predicting damaging missense mutations

@ast

A method and server for predicting damaging missense mutations

@en

A method and server for predicting damaging missense mutations

@nl

prefLabel

A method and server for predicting damaging missense mutations

@ast

A method and server for predicting damaging missense mutations

@en

A method and server for predicting damaging missense mutations

@nl

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A method and server for predicting damaging missense mutations

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Alexey S Kondrashov

http://www.w3.org/2001/XMLSchema#string

Anna Gerasimova

http://www.w3.org/2001/XMLSchema#string

Ivan A Adzhubei

http://www.w3.org/2001/XMLSchema#string

Shamil R Sunyaev

http://www.w3.org/2001/XMLSchema#string

Steffen Schmidt

http://www.w3.org/2001/XMLSchema#string

Vasily E Ramensky

http://www.w3.org/2001/XMLSchema#string

P2860

SIFT: Predicting amino acid changes that affect protein function

Human non-synonymous SNPs: server and survey

SNPs3D: candidate gene and SNP selection for association studies.

Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information.

SNAP predicts effect of mutations on protein function.

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scholarly article

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33702

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10.1038/NMETH0410-248

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4

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1007489634

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