Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.R112P
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HNF4A

NM_175914.5:p.R112P

Associated Papers

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

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.

Barbacci E et al.

Human Molecular Genetics, 2004

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

Bellanné-Chantelot C et al.

Annals of Internal Medicine, 2004

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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."