Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.M373R
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HNF4A

NM_000457.6:p.M373R

Associated Papers

Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.

Buhur Pirimoglu M et al.

Irish Journal of Medical Science, 2025

Scalable Dual-Fluorescence Assay for Functional Interpretation of HNF-4α Missense Variants.

Guo Y et al.

Frontiers in Endocrinology, 2022

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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