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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYSF

Variant:p.S2069delFs

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DYSF

NM_001130987.2:p.S2069delFs

hg38:chr2:71682561 TC>T

Associated Papers

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength.

Cheema I et al.

Orphanet Journal of Rare Diseases, 2025

40545540 (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."