Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.L135insFs
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ABCC8

NM_000352.6:p.L135insFs

Associated Papers

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

Arya VB et al.

European Journal of Endocrinology, 2014

Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.

Yorifuji T et al.

Clinical Endocrinology, 2013

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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."