BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Zeinab Fadaie, Laura Whelan, Adrian Dockery, Catherina H Z Li, L Ingeborgh van der Born, Carel B Hoyng, Christian Gilissen, Jordi Corominas, Charlie Rowlands, Roly Megaw, Anne K Lampe, Frans P M Cremers, Gwyneth Jane Farrar, Jamie M Ellingford, Paul F Kenna, Susanne Roosing

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Medicine & Life Sciences