Associated Papers
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Reurink J et al.
Npj Genomic Medicine, 2022
35672333 (PubMed )
Supplement: 41525_2022_306_MOESM1_ESM.pdf
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL et al.
Ophthalmology, 2019
30905644 (PubMed )
Supplement: mmc6.pdf
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
30215852 (PubMed )
Supplement: CGE-94-569-s003.xlsx › VUS
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