Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
about
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesIdentification of candidate intergenic risk loci in autism spectrum disorder.Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Extended spectrum of MBD5 mutations in neurodevelopmental disorders.Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.Pathogenic or not? Assessing the clinical relevance of copy number variants.Exome sequencing and whole genome sequencing for the detection of copy number variation.Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
P2860
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P2860
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
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2011 nî lūn-bûn
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name
Exploring the potential role o ...... inked intellectual disability.
@en
type
label
Exploring the potential role o ...... inked intellectual disability.
@en
prefLabel
Exploring the potential role o ...... inked intellectual disability.
@en
P2093
P2860
P356
P1433
P1476
Exploring the potential role o ...... inked intellectual disability.
@en
P2093
Alice Masurel-Paulet
Asma Ali Khan
Christel Thauvin-Robinet
Christophe Philippe
Céline Bonnet
Francine Mugneret
Laurence Faivre
Mylène Béri-Dexheimer
Patrick Callier
Philippe Jonveaux
P2860
P304
P356
10.1002/HUMU.21649
P577
2011-11-28T00:00:00Z