Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.S249P
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HNF1A

NM_000545.8:p.S249P

Associated Papers

Molecular background and clinical characteristics of HNF1A MODY in a Polish population.

Skupien J et al.

Diabetes & Metabolism, 2008

Renal malformations may be linked to mutations in the hepatocyte nuclear factor-1alpha (MODY3) gene.

Malecki MT et al.

Diabetes Care, 2005

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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."