Varaico: Literature-Extracted Genetic Variants

Gene:EP400
Variant:p.R1451Q
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EP400

NM_015409.5:p.R1451Q

Associated Papers

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."