MutationTaster evaluates disease-causing potential of sequence alterations
about
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohortExome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family studyNext-generation sequencing identifies transportin 3 as the causative gene for LGMD1FNo evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeX-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationTBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasiaA novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean FeverMultiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss familyImproved exome prioritization of disease genes through cross-species phenotype comparisonMutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hairMutations in CERS3 cause autosomal recessive congenital ichthyosis in humansHuman CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionAlterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephalyExome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaCombined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseBMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasiaZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityMutations in SCO2 are associated with autosomal-dominant high-grade myopiaMolecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceExome sequencing reveals new causal mutations in children with epileptic encephalopathiesExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisGeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomesPractical aspects of NGS-based pathways analysis for personalized cancer science and medicineRetinal dystrophies, genomic applications in diagnosis and prospects for therapyTwo-phase and family-based designs for next-generation sequencing studiesDisease gene identification strategies for exome sequencingDisease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseasesExome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing lossClinical and genetic features of cervical dystonia in a large multicenter cohortMissense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breedA de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.A novel mutation in CELSR1 is associated with hereditary lymphedemaNovel gene function revealed by mouse mutagenesis screens for models of age-related disease.TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathyDNMT3A mutations and response to the hypomethylating agent decitabine in acute myeloid leukemia.Age-related prognostic impact of different types of DNMT3A mutations in adults with primary cytogenetically normal acute myeloid leukemiaIntegrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinomaRecent Progress in Machine Learning-Based Methods for Protein Fold RecognitionThe genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance
P2860
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P2860
MutationTaster evaluates disease-causing potential of sequence alterations
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին 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
MutationTaster evaluates disease-causing potential of sequence alterations
@ast
MutationTaster evaluates disease-causing potential of sequence alterations
@en
type
label
MutationTaster evaluates disease-causing potential of sequence alterations
@ast
MutationTaster evaluates disease-causing potential of sequence alterations
@en
prefLabel
MutationTaster evaluates disease-causing potential of sequence alterations
@ast
MutationTaster evaluates disease-causing potential of sequence alterations
@en
P2093
P3181
P356
P1433
P1476
MutationTaster evaluates disease-causing potential of sequence alterations
@en
P2093
Rödelsperger C
Schuelke M
Schwarz JM
P2888
P3181
P356
10.1038/NMETH0810-575
P407
P577
2010-08-01T00:00:00Z
P6179
1028459136