Associated Papers
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S3_gnomAD.xlsx › gnomAD_2022-04-19
Systematic profiling of temperature- and retinal-sensitive rhodopsin variants by deep mutational scanning.
McKee AG et al.
The Journal of Biological Chemistry, 2021
34756884 (PubMed )
Supplement: mmc1.pdf
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
Bareil C et al.
Human Genetics, 2001
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