Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.T298del1
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KCNJ11

NM_000525.4:p.T298del1

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

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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."