Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.D269E
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KCNJ11

NM_000525.4:p.D269E

Associated Papers

Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.

Biagiotti L et al.

Experimental and Molecular Pathology, 2007

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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."