A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 39666384.
- Also identified by DOI 10.1172/JCI178528 and PMC identifier 11785915.
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Abstract
This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.
Medical subject headings
- Exons
- Introns
- Mutation