Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.G355R
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HNF4A

NM_175914.5:p.G355R

Associated Papers

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.

Bouvet D et al.

Human Mutation, 2023

ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications.

Timmers M et al.

Diabetes/metabolism Research and Reviews, 2021

Case Report: A Novel ABCC8 Variant in a Chinese Pedigree of Maturity-Onset Diabetes of the Young.

Tang C et al.

Frontiers in Endocrinology, 2021

35002955 (PubMed )
Supplement: Table_2.xlsx › Sheet1
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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."