Aug 2026
CLUAP1 variants cause non-syndromic retinitis pigmentosa.
Jacqueline Fröhlich, F. Testa, Karolina Kaminska et al.
· Graefe's archive for clinica... · 0 citations
We have 2 of 21 papers
We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.
Not the right person? Other researchers publish under this name.
Open access
Aug 2026
The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations
Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.
Petra Liskova, L. Dudakova, Karolina Kaminska et al.
· HGG advances · 0 citations