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Paper Details

Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.
J Hum Genet
11
2021
AMPA, AMPA sensitive glutamate receptor, COS, Childhood-onset schizophrenia, GRIA2, GRIA2 gene, GluA2, GluA2 subunit, NM_000826, OCD, T, anxiety, autism spectrum disorder, c.1522G, c.1522G>T, epilepsy, glutamate, intellectual disability, neuropsychiatric conditions, obsessive-compulsive disorder, p, schizophrenia, single gene
Author NameAffiliation
Erin L HeinzenInstitute for Genomic Medicine, Columbia University Medical Center
Erin L HeinzenEshelman School of Pharmacy, University of North Carolina
David B GoldsteinInstitute for Genomic Medicine, Columbia University Medical Center
David B GoldsteinInstitute for Genomic Medicine, Columbia University Medical Center
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Release 1.2