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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAVIN1

Variant:p.K173_E174delFs

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CAVIN1

NM_012232.6:p.K173_E174delFs

hg38:chr17:42405338 CTCTT>C

Associated Papers

Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.

Shastry S et al.

American Journal of Medical Genetics. Part A, 2010

20684003 (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."