Journal Article

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

Jan Halbritter; Jonathan D. Porath; Katrina A. Diaz; Daniela A. Braun; Stefan Kohl; Moumita Chaki; Susan J. Allen; Neveen A. Soliman; Friedhelm Hildebrandt; Edgar A. Otto

Human Genetics · Vol. 132, Issue 8 · pp. 865-884 · 2013

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Abstract

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2013-08-01
Publication Year	2013
Volume	132
Issue	8
Pages	865-884
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-013-1297-0

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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