Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.
Dorval G,Le Gac G,Morinière V,Ka C,Goursaud C,Knebelmann B,Marijon P,Nambot S,Cagnard N,Nitschké P,Michel-Calemard L,Audrézet M,Heidet L
Source :
2024 Jun 27
Pmid / DOI:
38944240
Abstract
KEYWORDSautosomal dominant polycystic kidney disease, deep intronic noncoding variants, splicing, targeted RNAseq