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Paper Details

<i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosa.
J Med Genet
11
2022
Author NameAffiliation
Carel B HoyngDonders Institute for Brain Cognition and Behaviour
Carel B Hoyng
Christian Gilissen
Christian GilissenRadboud Institute of Molecular Life Sciences
Jamie M EllingfordManchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Jamie M EllingfordThe University of Manchester Faculty of Biology Medicine and Health
Susanne Roosing
Susanne RoosingDonders Institute for Brain Cognition and Behaviour
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