Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.T322_H324delFs
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GATA6

NM_005257.6:p.T322_H324delFs

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

Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.

Chao CS et al.

Plos One, 2015

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