Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Konstantin Deutsch,Verena Klämbt, Thomas M. Kitzler,Tilman Jobst-Schwan, Ronen Schneider,Florian Buerger, Steve Seltzsam, Sherif El Desoky,Jameela A. Kari, Farkhanda Hafeez, Maria Szczepańska, Loai A. Eid, Hazem S. Awad,Muna Al-Saffar, Neveen A. Soliman,Velibor Tasic, Camille Nicolas-Frank, Kirollos Yousef, Luca M. Schierbaum,Sophia Schneider

Genes & Diseases(2023)

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