Varaico: Literature-Extracted Genetic Variants

Gene:SHANK1
Variant:p.P1806L
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SHANK1

NM_016148.5:p.P1806L

Associated Papers

Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant.

Dahlberg PM et al.

American Journal of Medical Genetics. Part A, 2025

Downregulation of mGluR1-mediated signaling underlying autistic-like core symptoms in Shank1 P1812L-knock-in mice.

Qin Y et al.

Translational Psychiatry, 2023

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."