Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.

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

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