Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.Q323E
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HNF4A

NM_175914.5:p.Q323E

Associated Papers

Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes.

Schiabor Barrett KM et al.

Communications Medicine, 2024

39567669 (PubMed )
Supplement: 43856_2024_663_MOESM5_ESM.xlsx › GCK_Supplementary_Data_2

A Review of Functional Characterization of Single Amino Acid Change Mutations in HNF Transcription Factors in MODY Pathogenesis.

Çubuk H et al.

The Protein Journal, 2021

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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."