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A combined in silico, in vitro and clinical approach to characterise novel pathogenic missense variants in PRPF31 in retinitis pigmentosa
Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson, Amanda Churchill
doi: https://doi.org/10.1101/480343
Gabrielle Wheway
1Centre for Research in Biosciences, University of the West of England, Bristol, UK
2Human Development and Health, University of Southampton, Southampton, UK
Liliya Nazlamova
1Centre for Research in Biosciences, University of the West of England, Bristol, UK
2Human Development and Health, University of Southampton, Southampton, UK
Nervine Meshad
3Bristol Eye Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
Samantha Hunt
3Bristol Eye Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
Nicola Jackson
4Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
Amanda Churchill
3Bristol Eye Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
Article usage
Posted December 02, 2018.
A combined in silico, in vitro and clinical approach to characterise novel pathogenic missense variants in PRPF31 in retinitis pigmentosa
Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson, Amanda Churchill
bioRxiv 480343; doi: https://doi.org/10.1101/480343
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