Article

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase ( <i>CEL</i> ) gene determines pathogenicity

2020-12-24

Abstract excerpt

<h4>ABSTRACT</h4> Variable number of tandem repeat (VNTR) sequences present in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. CEL has a VNTR located in exon 11, and rare single-base deletions (DELs) within this region cause MODY8, an inherited disorder characterized by exocrine pancreatic...

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Literature Corpus work: 5dd4e00e-f70c-58e8-a0b5-010baa54105c
DOI: 10.1101/2020.12.23.424204

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