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
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
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Allen HL et al.
Nature Genetics, 2011
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