Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.S581T
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ABCC8

NM_000352.6:p.S581T

Associated Papers

Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease.

Han B et al.

American Journal of Clinical Pathology, 2016

Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel.

Salisbury RJ et al.

Diabetes, 2015

25931474 (PubMed )
Supplement: supp_db14-1202_DB141202SupplementaryData1.pdf
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