Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Markus Schueler, Jan Halbritter, Ian G. Phelps, Daniela A. Braun, Edgar A. Otto, Jonathan D. Porath, Heon Yung Gee, Jay Shendure, Brian J. O'Roak, Jennifer A. Lawson, Marwa M. Nabhan, Neveen A. Soliman, Dan Doherty, Friedhelm Hildebrandt

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32 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology