Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1
Variant:p.R1190S
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RPGRIP1

NM_020366.4:p.R1190S

Associated Papers

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Panneman DM et al.

Investigative Ophthalmology & Visual Science, 2025

40465261 (PubMed )
Supplement: iovs-66-6-19_s002.pdf

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J et al.

Genes, 2022

35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf
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