Varaico: Literature-Extracted Genetic Variants

Gene:GABRA1
Variant:p.S326fs
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GABRA1

NM_001127644.2:p.S326fs

Associated Papers

GABRA1 frameshift variants impair GABAA receptor proteostasis.

Williams MP et al.

Biorxiv : the Preprint Server for Biology, 2025

A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.

Steudle F et al.

Scientific Reports, 2020

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