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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GSDME

Variant:p.V330_C331Splc

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GSDME

NM_001127453.2:p.V330_C331Splc

hg38:chr7:24706377 C>T

Associated Papers

A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.

Yang B et al.

Frontiers in Neurology, 2026

41725728 (PubMed )

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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."