Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.E285Q
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HNF4A

NM_000457.6:p.E285Q

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

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.

Murray Leech J et al.

Nature Metabolism, 2025

40925988 (PubMed )
Supplement: 42255_2025_1372_MOESM1_ESM.pdf

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.

Tatsi EB et al.

Pediatric Diabetes, 2020

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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."