Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.L300_A301insFs
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GATA6

NM_005257.6:p.L300_A301insFs

Associated Papers

An animal model recapitulates human hepatic diseases associated with GATA6 mutations.

Shi W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

39739787 (PubMed )
Supplement: pnas.2317801121.sapp.pdf

Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.

Yue X et al.

Molecular Biotechnology, 2024

37204622 (PubMed )
Supplement: 12033_2023_761_MOESM1_ESM.pdf

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Wyatt RC et al.

Diabetologia, 2022

35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf

GATA6 Mutation: A Rare Genetic Cause of Hepatobiliary Disease.

Ferreira S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

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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."