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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POMC

Variant:p.A15insFs

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POMC

NM_000939.4:p.A15insFs

hg38:chr2:25164727 A>AG

Associated Papers

IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes.

Liu X et al.

Frontiers in Molecular Neuroscience, 2022

36267700 (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."