Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.A45V
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KCNJ11

NM_000525.4:p.A45V

Associated Papers

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.

Patch AM et al.

Diabetes, Obesity & Metabolism, 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."