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PubMed (cited) for id: 617236
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat. 2020 May;41(5):998-1011. doi: 10.1002/humu.23993. Epub 2020 Feb 12.
Hum Mutat. 2020.
PMID: 31999394
Free PMC article.
CEP78 is mutated in a distinct type of Usher syndrome.
Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R.
Fu Q, et al.
J Med Genet. 2017 Mar;54(3):190-195. doi: 10.1136/jmedgenet-2016-104166. Epub 2016 Sep 14.
J Med Genet. 2017.
PMID: 27627988
Free PMC article.
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Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D.
Namburi P, et al.
Am J Hum Genet. 2016 Sep 1;99(3):777-784. doi: 10.1016/j.ajhg.2016.07.010.
Am J Hum Genet. 2016.
PMID: 27588452
Free PMC article.
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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C.
Nikopoulos K, et al.
Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009.
Am J Hum Genet. 2016.
PMID: 27588451
Free PMC article.
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Progressive cone dystrophy and sensorineural hearing loss.
Witters JA, De Zaeytijd J, Leys M, Leroy BP.
Witters JA, et al.
Bull Soc Belge Ophtalmol. 2004;(294):35-42.
Bull Soc Belge Ophtalmol. 2004.
PMID: 15682917
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