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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Document Type

Article

Author

Fadaie, Z.; Gilissen, C.; Corominas, J.; Cremers, F.P.M.; Roosing, S.; Li, C.H.Z.; Hoyng, C.B.; Whelan, L.; Dockery, A.; Farrar, G.J.; Kenna, P.F.; Van Den Born, L.I.; Rowlands, C.; Ellingford, J.M.; Megaw, R.; Lampe, A.K.

Source

In: Journal of Medical Genetics. (Journal of Medical Genetics, 1 May 2022, 59(5):438-444)

Subject

Language

English

ISSN

14686244
00222593

Online Access

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

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