Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.G476_V477Splc
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GATA6

NM_005257.6:p.G476_V477Splc

Associated Papers

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

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

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

Chao CS et al.

Plos One, 2015

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