Varaico: Literature-Extracted Genetic Variants

Gene:STIM1
Variant:p.R304G
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STIM1

NM_001382567.1:p.R304G

Associated Papers

STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.

Lafabrie E et al.

Journal of Medical Genetics, 2025

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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."