De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
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The Role of Additional Sex Combs-Like Proteins in Cancer.Histone H2A Monoubiquitination in Neurodevelopmental Disorders.Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency.Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.Ubiquitylation at the crossroads of development and disease.Identification of the difference in the pathogenesis in heart failure arising from different etiologies using a microarray dataset.A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome.Placentation defects are highly prevalent in embryonic lethal mouse mutants.
P2860
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P2860
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
De novo dominant ASXL3 mutatio ...... in Bainbridge-Ropers syndrome.
@ast
De novo dominant ASXL3 mutatio ...... in Bainbridge-Ropers syndrome.
@en
type
label
De novo dominant ASXL3 mutatio ...... in Bainbridge-Ropers syndrome.
@ast
De novo dominant ASXL3 mutatio ...... in Bainbridge-Ropers syndrome.
@en
prefLabel
De novo dominant ASXL3 mutatio ...... in Bainbridge-Ropers syndrome.
@ast
De novo dominant ASXL3 mutatio ...... in Bainbridge-Ropers syndrome.
@en
P2093
P2860
P356
P1476
De novo dominant ASXL3 mutatio ...... in Bainbridge-Ropers syndrome
@en
P2093
Anshika Srivastava
Arul M Chinnaiyan
Catherine E Keegan
Donna M Martin
Fengyun Su
K C Ritesh
Mark C Hannibal
Xuhong Cao
Yao-Chang Tsan
P2860
P304
P356
10.1093/HMG/DDV499
P577
2015-12-08T00:00:00Z