Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
37047703 (PubMed )
Supplement: ijms-24-06728-s001.zip › WangYW-PRPH2-sup_Table_S2_sub.xlsx › Sheet1
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
34411390 (PubMed )
Supplement: HUMU-42-1521-s005.xlsx › Protein_truncating_variants
A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
Pajic B et al.
Retina (philadelphia, Pa.), 2006
Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina.
Weigell-Weber M et al.
Molecular Vision, 1996
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