Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
Otto EA; Tory K; Attanasio M; Zhou W; Chaki M; Paruchuri Y; Wise EL; Wolf MT; Utsch B; Becker C; Nürnberg G; Nürnberg P; Nayir A; Saunier S; Antignac C; Hildebrandt F; Journal Of Medical Genetics, 2009, vol. 46, issue 10, p 663, ISSN 14686244. ISBN 14686244.

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