Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.Q235E
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KCNJ11

NM_000525.4:p.Q235E

Associated Papers

Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

Boodhansingh KE et al.

American Journal of Medical Genetics. Part A, 2019

Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.

Sang Y et al.

Endocrine Journal, 2014

[ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree].

Xu ZD et al.

Zhonghua Yi Xue Za Zhi, 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."