NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
about
Mechanism and regulation of the nonsense-mediated decay pathwayNovel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective studyHacDivSel: Two new methods (haplotype-based and outlier-based) for the detection of divergent selection in pairs of populations.Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.NBAS mutations cause acute liver failure: when acetaminophen is not a culpritNeuroblastoma amplified sequence gene mutation: A rare cause of recurrent liver failure in children.Targeted next‑generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome‑2.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
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P2860
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
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2015年學術文章
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name
NBAS mutations cause a multisy ...... er, immune system, and retina.
@en
NBAS mutations cause a multisy ...... er, immune system, and retina.
@nl
type
label
NBAS mutations cause a multisy ...... er, immune system, and retina.
@en
NBAS mutations cause a multisy ...... er, immune system, and retina.
@nl
prefLabel
NBAS mutations cause a multisy ...... er, immune system, and retina.
@en
NBAS mutations cause a multisy ...... er, immune system, and retina.
@nl
P2093
P2860
P356
P1476
NBAS mutations cause a multisy ...... er, immune system, and retina.
@en
P2093
Andrea Superti-Furga
Belinda Campos-Xavier
Beryl Royer-Bertrand
Brian Stevenson
Cees Vermeer
Fabio Candotti
Francis L Munier
Heather Crawford
Karin van Spaendonck-Zwarts
Luisa Bonafé
P2860
P304
P356
10.1002/AJMG.A.37338
P407
P577
2015-08-19T00:00:00Z