Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
about
Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.New insights into the phenotype of FARS2 deficiency.Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.Metabolic etiologies in West syndrome.mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei
P2860
Q38668900-F65E70D2-F6E0-4EEB-ADAD-E241D4F313F1Q39017178-29E0A0B3-5390-46A0-AA0B-4AC8B553DF64Q41369999-7825091D-0697-4474-A6F1-92E78E1551DEQ47149710-A929F3AF-CB63-4439-A1BE-DCF9CE0CA89CQ52639025-51CA86FE-9FE9-4E80-B5C1-CE431A0F1654Q55235450-6ED9B7C0-0BB5-450B-994C-75EB185E566CQ58779771-7FEE9804-4904-4596-87E0-13D5D9C635E6
P2860
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Clinical findings in a patient ...... -encephalopathy with epilepsy.
@en
Clinical findings in a patient ...... -encephalopathy with epilepsy.
@nl
type
label
Clinical findings in a patient ...... -encephalopathy with epilepsy.
@en
Clinical findings in a patient ...... -encephalopathy with epilepsy.
@nl
prefLabel
Clinical findings in a patient ...... -encephalopathy with epilepsy.
@en
Clinical findings in a patient ...... -encephalopathy with epilepsy.
@nl
P2093
P2860
P50
P356
P1476
Clinical findings in a patient ...... e-encephalopathy with epilepsy
@en
P2093
Andrea Righini
Cecilia Parazzini
Federico Raviglione
Giorgio Conte
Luigina Spaccini
Massimo Mastrangelo
Raffaella Vergaro
Serena Gasperini
P2860
P304
P356
10.1002/AJMG.A.37836
P407
P577
2016-08-23T00:00:00Z