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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYSF

Variant:p.I232_K233insFs

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DYSF

NM_001130987.2:p.I232_K233insFs

hg38:chr2:71513857 T>TC

Associated Papers

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

Hayashi YK et al.

The Journal of Clinical Investigation, 2009

19726876 (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."