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

Kidney Int

Université de Paris Cité, Laboratoire des Maladies Rénales Héréditaires, Inserm U1163, Institut Imagine, Paris, France; Laboratoire de Biologie Médicale MultiSites Sequencing, Omics, Information Analysis (SeqOIA), Paris, France; Assistance Publique des Hôpitaux de Paris (APHP) Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Universitaire Necker-Enfants malades, Paris, France. Electronic address:

Published: September 2024

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http://dx.doi.org/10.1016/j.kint.2024.05.029DOI Listing

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