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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYSF

Variant:p.S1017insFs

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DYSF

NM_001130980.2:p.S1017insFs

hg38:chr2:71570301 T>TC

Associated Papers

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Rufibach L et al.

Journal of Personalized Medicine, 2023

36983702 (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."