De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
about
Prevalence and architecture of de novo mutations in developmental disorders.Unexpected Binding Mode of a Potent Indeno[1,2-b]indole-Type Inhibitor of Protein Kinase CK2 Revealed by Complex Structures with the Catalytic Subunit CK2α and Its Paralog CK2α'.CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.
P2860
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
De novo mutations in CSNK2A1 a ...... ities and dysmorphic features.
@en
type
label
De novo mutations in CSNK2A1 a ...... ities and dysmorphic features.
@en
prefLabel
De novo mutations in CSNK2A1 a ...... ities and dysmorphic features.
@en
P2093
P2860
P1433
P1476
De novo mutations in CSNK2A1 a ...... ities and dysmorphic features.
@en
P2093
Amy Dameron
Berivan Baskin
Carolyn Applegate
Dmitriy Niyazov
Jane Juusola
Jonathan Picker
Kyle Retterer
Lauren Brady
Lindsay Henderson
Mark Tarnopolsky
P2860
P2888
P304
P356
10.1007/S00439-016-1661-Y
P577
2016-04-05T00:00:00Z
P5875
P6179
1033601373