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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OBSCN

Variant:p.P236delFs

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OBSCN

NM_001386125.1:p.P236delFs

hg38:chr1:228212486 GC>G

Associated Papers

Rhabdomyolysis associated with OBSCN mutations: case report and mechanistic review.

Liu Q et al.

Neuromuscular Disorders : Nmd, 2025

40813169 (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."