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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCC8

Variant:p.L175V

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ABCC8

NM_000352.6:p.L175V

hg38:chr11:17463494 G>C

Associated Papers

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

González-Barroso MM et al.

Plos One, 2008

19065272 (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."