Article

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

2023-03-20

Abstract excerpt

<title>Abstract</title> <p><italic>HNRNPU</italic> encodes a multifunctional RNA-binding protein that plays critical roles in regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and dysregulation of <italic>HNRNPU</italic> have been implicated in various human diseases, including cancers and neurological disorders. We applied a next generation sequencing based assay (EPIC-NGS) to in...

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Literature Corpus work: 35bc09e6-5af4-5d8a-a8f2-8541e7e253f2
DOI: 10.21203/rs.3.rs-2653174/v1

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