Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G40A
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KCNJ11

NM_000525.4:p.G40A

Associated Papers

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E et al.

Human Mutation, 2020

A Case Series: Congenital Hyperinsulinism.

Alaei MR et al.

International Journal of Endocrinology and Metabolism, 2016

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Kapoor RR et al.

European Journal of Endocrinology, 2013

23345197 (PubMed )
Supplement: supp_EJE-12-0673_EJE_120673_Suppl_Table.pdf
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