Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.S383delFs
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KCNJ11

NM_000525.4:p.S383delFs

Associated Papers

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.

Pomahačová R et al.

Pediatric Diabetes, 2017

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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."