Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
about
Congenital defects in neutrophil dynamicsGenetic Basis of Brain MalformationsHeterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsBaraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.Insights into the effects of disease-causing mutations in human actins.Baraitser-Winter cerebrofrontofacial syndrome.A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndromeTargeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.Endosomal sorting and c-Cbl targeting of paxillin to autophagosomes regulate cell-matrix adhesion turnover in human breast cancer cells.Baraitser and Winter syndrome with growth hormone deficiencyHeterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Mammalian Actins: Isoform-Specific Functions and Diseases.Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
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P2860
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
description
2014 nî lūn-bûn
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2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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name
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@ast
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@en
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@nl
type
label
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@ast
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@en
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@nl
prefLabel
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@ast
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@en
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@nl
P2093
P2860
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P1476
Severe forms of Baraitser-Wint ...... ns rather than ACTG1 mutations
@en
P2093
K Hackmann
V M Der Kaloustian
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P2888
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P356
10.1038/EJHG.2013.130
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P577
2013-06-12T00:00:00Z