Varaico: Literature-Extracted Genetic Variants

Gene:EP400
Variant:p.R832G
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EP400

NM_015409.5:p.R832G

Associated Papers

A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models.

Morimoto Y et al.

Translational Psychiatry, 2021

33602898 (PubMed )
Supplement: 41398_2021_1258_MOESM3_ESM.docx

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s003.pdf
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