Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.C444R
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GATA6

NM_005257.6:p.C444R

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

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

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

Whitcomb J et al.

Iubmb Life, 2020

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
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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."