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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCC8

Variant:p.H1363Q

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ABCC8

NM_000352.6:p.H1363Q

hg38:chr11:17396946 G>C

Associated Papers

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.

Velde CD et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

38963811 (PubMed )

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