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Use of Patient-Derived Cell Models for Characterization of Compound Heterozygous Hypomorphic C2CD3 Variants in a Patient with Isolated Nephronophthisis.

Zachary T. Sentell,Lina Mougharbel, Zachary W. Nurcombe,Sima Babayeva, Marc Henein, Lee,Murielle M. Akpa, Chen-Fang Chung,Jean-Baptiste Riviere,Mihaela Pupavac,Rui Li,David S. Rosenblatt,Jacek Majewski,Paul R. Goodyer,Elena Torban,Thomas M. Kitzler

HUMAN MOLECULAR GENETICS（2024）

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关键词
C2CD3,nephronophthisis,chronic kidney disease,ciliopathy,hypomorphic variants
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