Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.E508*
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HNF1A

NM_000545.8:p.E508*

Associated Papers

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

De Sousa SMC et al.

Acta Diabetologica, 2024

Genetic and clinical characteristics of patients with HNF1A gene variations from the German-Austrian DPV database.

Awa WL et al.

European Journal of Endocrinology, 2011

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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."