Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
about
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Aminoacyl-tRNA synthetases.Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.The role of tRNA synthetases in neurological and neuromuscular disorders.Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.Biochemical Characterization of the Lysine Acetylation of Tyrosyl-tRNA Synthetase in Escherichia coli.Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature
P2860
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P2860
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
@en
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
@nl
type
label
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
@en
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
@nl
prefLabel
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
@en
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
@nl
P2093
P2860
P921
P1433
P1476
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
@en
P2093
Asim A Beg
Laurie B Griffin
Stephanie N Oprescu
P2860
P304
P356
10.1016/J.YMETH.2016.11.013
P577
2016-11-20T00:00:00Z
2017-01-15T00:00:00Z