Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.K1373_I1374Splc
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ABCC8

NM_000352.6:p.K1373_I1374Splc

Associated Papers

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy.

Taylor-Miller T et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

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