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 Vicki Hunt, Nicola P. Jackson, A Churchill
The paper uses in silico, in vitro, and clinical approaches to assess the pathogenicity of a novel missense variant in PRPF31 associated with retinitis pigmentosa.
Frontiers in Genetics · Mar 22, 2019Peer-reviewedGenetics