Varaico: Literature-Extracted Genetic Variants

Gene:HNF4A
Variant:p.E256A
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HNF4A

NM_175914.5:p.E256A

Associated Papers

Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.

Ushijima K et al.

Pediatric Diabetes, 2018

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Santana LS et al.

Clinical Genetics, 2017

Catalytic activation of human glucokinase by substrate binding: residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions.

Molnes J et al.

The Febs Journal, 2008

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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."