Varaico: Literature-Extracted Genetic Variants

Gene:GSDME
Variant:p.S336S
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GSDME

NM_001127453.2:p.S336S

Associated Papers

Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.

Chin JJ et al.

Human 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."