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Published in 2019 at "Annals of Neurology"
DOI: 10.1002/ana.25620
Abstract: The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cyclic adenosine monophosphate (cAMP) signaling. Besides gastric cancer, no disease association has been described. We describe a new muscular dystrophy associated with…
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Keywords:
popdc3 gene;
gene variants;
muscular dystrophy;
variants associate ... See more keywords