Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.
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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresCHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
P2860
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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name
Spatial Clustering of de Novo ...... tal Disorder-Associated Genes.
@en
Spatial Clustering of de Novo ...... tal Disorder-Associated Genes.
@nl
type
label
Spatial Clustering of de Novo ...... tal Disorder-Associated Genes.
@en
Spatial Clustering of de Novo ...... tal Disorder-Associated Genes.
@nl
prefLabel
Spatial Clustering of de Novo ...... tal Disorder-Associated Genes.
@en
Spatial Clustering of de Novo ...... tal Disorder-Associated Genes.
@nl
P2093
P2860
P50
P1476
Spatial Clustering of de Novo ...... tal Disorder-Associated Genes.
@en
P2093
Christian Gilissen
Gerrit Vriend
Han G Brunner
Lisenka E L M Vissers
Rolph Pfundt
Stefan H Lelieveld
P2860
P304
P356
10.1016/J.AJHG.2017.08.004
P407
P577
2017-08-31T00:00:00Z