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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNJ11

Variant:p.P254Q

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KCNJ11

NM_000525.4:p.P254Q

hg38:chr11:17387331 G>T

Associated Papers

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

32376986 (PubMed )

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

Gole E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

28943514 (PubMed )

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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."