Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.S308C
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CALHM3

NM_001129742.2:p.S308C

Associated Papers

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Roberts JP et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Internal gate mutants of the GABA transporter GAT1 are capable of substrate exchange.

Dayan-Alon O et al.

Neuropharmacology, 2019

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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."