De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
about
Molecular subtyping and improved treatment of neurodevelopmental disease.De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.Methylation-regulated decommissioning of multimeric PP2A complexes.Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa.Targeted disruption of the mouse protein phosphatase ppm1l gene leads to structural abnormalities in the brain.Quantification of Phenotype Information Aids the Identification of Novel Disease Genes.
P2860
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P2860
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
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
De novo missense variants in P ...... cephaly, hypotonia, and autism
@ast
De novo missense variants in P ...... cephaly, hypotonia, and autism
@en
type
label
De novo missense variants in P ...... cephaly, hypotonia, and autism
@ast
De novo missense variants in P ...... cephaly, hypotonia, and autism
@en
prefLabel
De novo missense variants in P ...... cephaly, hypotonia, and autism
@ast
De novo missense variants in P ...... cephaly, hypotonia, and autism
@en
P2093
P2860
P1433
P1476
De novo missense variants in P ...... cephaly, hypotonia, and autism
@en
P2093
Chin-To Fong
Donald S Petrey
Jane Schuette
Jason Carmichael
Jeffrey Innis
Julie Lundberg
Katrina M Haude
Kristin G Monaghan
Kyle Retterer
Leandra Folk
P2860
P2888
P356
10.1007/S10048-015-0466-9
P577
2015-11-17T00:00:00Z