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PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
Known as:
PACHD
National Institutes of Health
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2014
2014
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense‐mediated mRNA decay
Shigeru Suzuki
,
A. Nakao
,
+5 authors
H. Azuma
American Journal of Medical Genetics. Part A
2014
Corpus ID: 24393282
Recently, GATA6 heterozygous loss‐of‐function mutations were reported to cause pancreatic agenesis and congenital heart defects…
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