Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G135insFs
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KCNJ11

NM_000525.4:p.G135insFs

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

[Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism].

Gubaeva DN et al.

Problemy Endokrinologii, 2019

Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.

Şıklar Z et al.

Journal of Clinical Research in Pediatric Endocrinology, 2016

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

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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