Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.R457G
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GATA6

NM_005257.6:p.R457G

Associated Papers

Children with Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA.

Denson AM et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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."