Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
about
Models for discovery of targeted therapy in genetic epileptic encephalopathies.Emerging Monogenic Complex Hyperkinetic Disorders.De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.Clustering the autisms using glutamate synapse protein interaction networks from cortical and hippocampal tissue of seven mouse models
P2860
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
description
2017 nî lūn-bûn
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2017年学术文章
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name
Novel homozygous missense vari ...... tic features without epilepsy.
@en
Novel homozygous missense vari ...... tic features without epilepsy.
@nl
type
label
Novel homozygous missense vari ...... tic features without epilepsy.
@en
Novel homozygous missense vari ...... tic features without epilepsy.
@nl
prefLabel
Novel homozygous missense vari ...... tic features without epilepsy.
@en
Novel homozygous missense vari ...... tic features without epilepsy.
@nl
P2093
P2860
P356
P1476
Novel homozygous missense vari ...... tic features without epilepsy.
@en
P2093
Audrey Labalme
Dorothée Ville
Gaetan Lesca
Johannes R Lemke
Maryline Carneiro
Massimiliano Rossi
Nicolas Chatron
Patrick Edery
Vincent des Portes
P2860
P2888
P304
P356
10.1038/EJHG.2016.163
P577
2017-01-04T00:00:00Z