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Springer, Human Genetics, 8(132), p. 865-884, 2013

DOI: 10.1007/s00439-013-1297-0

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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Journal article published in 2013 by Jan Halbritter ORCID, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun, Stefan Kohl, Moumita Chaki, Susan J. Allen, Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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