Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.P202_Y203insFs
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GATA6

NM_005257.6:p.P202_Y203insFs

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

A novel mutation in GATA6 causes pancreatic agenesis.

Stanescu DE et al.

Pediatric Diabetes, 2015

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

Chao CS et al.

Plos One, 2015

25706805 (PubMed )
Supplement: pone.0118449.s001.pdf
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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."