Article

Specific heterozygous frameshift variants in <i>hnRNPA2B1</i> cause early-onset oculopharyngeal muscular dystrophy

2021-04-16

Abstract excerpt

<h4>Summary</h4> RNA-binding proteins (RBPs) are essential for post-transcriptional regulation and processing of RNAs. Pathogenic missense variants in RBPs underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, inclusion body myopathy, distal myopathy, and Paget’s disease of the bone. Here, we present ten independent families with a severe, progressive, early-o...

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Literature Corpus work: de6085ba-6283-5969-822c-35ebd219d679
DOI: 10.1101/2021.04.08.21254942

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