Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
about
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network AnalysisClustering the autisms using glutamate synapse protein interaction networks from cortical and hippocampal tissue of seven mouse modelsA conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca permeability
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P2860
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
description
2017 nî lūn-bûn
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2017年学术文章
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name
Hotspots of missense mutation ...... genes and functional domains.
@en
Hotspots of missense mutation ...... genes and functional domains.
@nl
type
label
Hotspots of missense mutation ...... genes and functional domains.
@en
Hotspots of missense mutation ...... genes and functional domains.
@nl
prefLabel
Hotspots of missense mutation ...... genes and functional domains.
@en
Hotspots of missense mutation ...... genes and functional domains.
@nl
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P2860
P50
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Hotspots of missense mutation ...... genes and functional domains.
@en
P2093
Antonino Alberti
Bradley P Coe
Britt-Marie Anderlid
Christopher Barnett
Elizabeth M Thompson
Emanuela Avola
Evan E Eichler
Geert Vandeweyer
Gijs W E Santen
P2860
P2888
P304
P356
10.1038/NN.4589
P407
P50
P577
2017-06-19T00:00:00Z