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Published in 2020 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2020.04.011
Abstract: Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles (RVs)…
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Keywords:
expansion;
gipc1;
repeat;
ggc repeat ... See more keywords
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Published in 2018 at "ESMO Open"
DOI: 10.1136/esmoopen-2018-eacr25.183
Abstract: Introduction Pancreatic ductal adenocarcinoma (PDAC) is associated with a 5 year survival rate of less than 4%, indicating the often poor success rate of chemotherapy and the need for novel treatment strategies based on targeted therapies.…
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Keywords:
knockdown;
gipc1;
neuropilin axis;
inhibition ... See more keywords