Association of rare missense variants in the second intracellular loop of Na V 1.7 sodium channels w...
Association of rare missense variants in the second intracellular loop of Na V 1.7 sodium channels with familial autism
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Author / Creator
Rubinstein, M , Patowary, A , Stanaway, I B , McCord, E , Nesbitt, R R , Archer, M , Scheuer, T , Nickerson, D , Raskind, W H , Wijsman, E M , Bernier, R , Catterall, W A and Brkanac, Z
Publisher
England
Journal title
Language
English
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Publication information
Publisher
England
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Scope and Contents
Contents
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder often accompanied by intellectual disability, language impairment and medical co-morbidities. The heritability of autism is high and multiple genes have been implicated as causal. However, most of these genes have been identified in de novo cases. To further the understanding o...
Alternative Titles
Full title
Association of rare missense variants in the second intracellular loop of Na V 1.7 sodium channels with familial autism
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Record Identifier
TN_cdi_pubmed_primary_27956748
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmed_primary_27956748
Other Identifiers
E-ISSN
1476-5578
DOI
10.1038/mp.2016.222
