Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.G469E
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GATA6

NM_005257.6:p.G469E

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

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

Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes.

Williams SG et al.

Journal of Human Genetics, 2022

Emerging BRAF Mutations in Cancer Progression and Their Possible Effects on Transcriptional Networks.

Śmiech M et al.

Genes, 2020

Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.

Sanchez-Lechuga B et al.

Bmc Medical Genetics, 2020

From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.

Whitcomb J et al.

Iubmb Life, 2020

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

Škorić-Milosavljević D et al.

American Journal of Medical Genetics. Part A, 2019

Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities.

Du YT et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2019

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

De Franco E et al.

American Journal of Human Genetics, 2019

31006513 (PubMed )
Supplement: mmc1.pdf

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

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.

De Franco E et al.

Diabetes, 2013

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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."