Redefining the MED13L syndrome

Redefining the MED13L syndrome

Item
http://www.wikidata.org/entity/Q36116727
Mediator kinase module and human tumorigenesisCoupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromesMED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.A complex molecular switch directs stress-induced cyclin C nuclear release through SCFGrr1-mediated degradation of Med13.Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.Language and Cognitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcriptional Regulator.MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Diagnostic value of partial exome sequencing in developmental disorders
P2860

Redefining the MED13L syndrome

Item
http://www.wikidata.org/entity/Q36116727
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Redefining the MED13L syndrome
@ast
Redefining the MED13L syndrome
@en
type
label
Redefining the MED13L syndrome
@ast
Redefining the MED13L syndrome
@en
prefLabel
Redefining the MED13L syndrome
@ast
Redefining the MED13L syndrome
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Redefining the MED13L syndrome
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932