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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DST

Variant:p.K2913_V2914Splc

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DST

NM_015548.5:p.K2913_V2914Splc

hg38:chr6:56536941 C>A

Associated Papers

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

40390582 (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."