Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q109Splc
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HNF1A

NM_000545.8:p.Q109Splc

Associated Papers

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_Probands

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.

Coffee EM et al.

Journal of Inherited Metabolic Disease, 2010

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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."