• Mutation; HGNC; HGNC:15446; PRPF31; Simple; p.Arg372Glnfs*99 (c.1115_1125del11); ClinVar=VCV000004358; Zygosity=Heterozygous (DOI=10.1101/232397).
  

DOI=10.1101/232397
Adriana Buskin, Li-Li Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas ...Show all 38 authors... , Gerrit Hilgen, Kathryn White, Dean Hallam, Katarzyna Bialas, Git Chung, Carla B. Mellough, Yu-Chun Ding, Natalio Krasnogor, Stefan A. Przyborski, Jumana Yousuf Al-Aama, Sameer Alharthi, Yao-Bo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris Francis Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Eric A. Pierce, Reinhard Luhrmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako; Show fewer authors
Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa.
bioRxiv 2017:232397-232397(2017)