Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.A612V
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ITPR1

NM_001378452.1:p.A612V

Associated Papers

A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.

Qin Y et al.

Molecular Psychiatry, 2022

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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."