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Year | Number of Results |
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2007 | 1 |
2013 | 1 |
2024 | 0 |
PubMed (cited) for id: 611498
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Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Hum Genet. 2013 Aug;132(8):865-84. doi: 10.1007/s00439-013-1297-0. Epub 2013 Apr 5.
Hum Genet. 2013.
PMID: 23559409
Free PMC article.
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M.
Attanasio M, et al.
Nat Genet. 2007 Aug;39(8):1018-24. doi: 10.1038/ng2072. Epub 2007 Jul 8.
Nat Genet. 2007.
PMID: 17618285
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