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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCC8

Variant:p.R193_R194Splc

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ABCC8

NM_000352.6:p.R193_R194Splc

hg38:chr11:17463409 C>G

Associated Papers

Genetic heterogeneity in familial hyperinsulinism.

Nestorowicz A et al.

Human Molecular Genetics, 1998

9618169 (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."