Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.L1361R
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ABCC8

NM_000352.6:p.L1361R

Associated Papers

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

Thornton PS et al.

Diabetes, 2003

Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

Meissner T et al.

Human Mutation, 1999

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

Nestorowicz A et al.

Human Molecular Genetics, 1996

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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."