VariantClassifier: A hierarchical variant classifier for annotated genomes.
about
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative diseaseGain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesMutations in DCHS1 cause mitral valve prolapseThe soft palate is an important site of adaptation for transmissible influenza virusesMutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentRecessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesVPA: an R tool for analyzing sequencing variants with user-specified frequency pattern.Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.SIFT web server: predicting effects of amino acid substitutions on proteinsSequence context of indel mutations and their effect on protein evolution in a bacterial endosymbiontEight new genomes and synthetic controls increase the accessibility of rapid melt-MAMA SNP typing of Coxiella burnetii.A proposal for the reference-based annotation of de novo transposable element insertionsPurifying selection, sequence composition, and context-specific indel mutations shape intraspecific variation in a bacterial endosymbiont.
P2860
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P2860
VariantClassifier: A hierarchical variant classifier for annotated genomes.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
VariantClassifier: A hierarchical variant classifier for annotated genomes.
@ast
VariantClassifier: A hierarchical variant classifier for annotated genomes.
@en
type
label
VariantClassifier: A hierarchical variant classifier for annotated genomes.
@ast
VariantClassifier: A hierarchical variant classifier for annotated genomes.
@en
prefLabel
VariantClassifier: A hierarchical variant classifier for annotated genomes.
@ast
VariantClassifier: A hierarchical variant classifier for annotated genomes.
@en
P2860
P356
P1433
P1476
VariantClassifier: A hierarchical variant classifier for annotated genomes.
@en
P2093
P2860
P2888
P356
10.1186/1756-0500-3-191
P577
2010-07-13T00:00:00Z
P5875
P6179
1042032124