Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.D248Y
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HNF4A

NM_175914.5:p.D248Y

Associated Papers

Functional Analysis of a Novel HNF4A Variant Identified in a Patient With MODY1.

Morikawa S et al.

Journal of the Endocrine Society, 2024

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

Giuffrida FMA et al.

Diabetes Research and Clinical Practice, 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."