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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POC1A

Variant:p.Q350insFs

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POC1A

NM_015426.5:p.Q350insFs

hg38:chr3:52096645 T>TG

Associated Papers

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.

Mericq V et al.

European Journal of Endocrinology, 2022

35234134 (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."