Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.Q299H
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KCNJ11

NM_000525.4:p.Q299H

Associated Papers

Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.

Şıklar Z et al.

Journal of Clinical Research in Pediatric Endocrinology, 2016

Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.

Kocaay P et al.

Hormone Research in Paediatrics, 2016

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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."