A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation.

ABSTRACT: This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.

SUBMITTER: Bousset K 

PROVIDER: S-EPMC11785915 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature