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

The term nephronophthisis-related ciliopathies (NPHP-RC) describes a group of rare autosomal-recessive cystic kidney diseases, characterized by broad genetic and clinical heterogeneity. NPHP-RC is frequently associated with extrarenal manifestations and accounts for the majority of genetically cause...

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Udgivet i:J Med Genet
Main Authors: Schueler, Markus, Halbritter, Jan, Phelps, Ian G., Braun, Daniela A., Otto, Edgar A., Porath, Jonathan D., Gee, Heon Yung, Shendure, Jay, O’Roak, Brian J., Lawson, Jennifer A., Soliman, Neveen A., Nabhan, Marwa M., Doherty, Dan, Hildebrandt, Friedhelm
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5057575/
https://ncbi.nlm.nih.gov/pubmed/26673778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103304
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