A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation
Kristine Bousset, … , Franco Pagani, Thilo Dörk
Kristine Bousset, … , Franco Pagani, Thilo Dörk
Published December 12, 2024
Citation Information: J Clin Invest. 2025;135(3):e178528. https://doi.org/10.1172/JCI178528.
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Research Letter Cell biology Genetics

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

Abstract

Authors

Kristine Bousset, Stefano Donega, Najim Ameziane, Tabea Fleischhammer, Dhanya Ramachandran, Miriam Poley-Gil, Detlev Schindler, Ingrid M. van de Laar, Franco Pagani, Thilo Dörk

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