Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.G248delFs
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GATA6

NM_005257.6:p.G248delFs

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

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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