Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.W56L
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KCNJ10

NM_002241.5:p.W56L

Associated Papers

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).

Islam S et al.

Molecular Genetics & Genomic Medicine, 2021

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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."