Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1
Variant:p.S1124P
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RPGRIP1

NM_020366.4:p.S1124P

Associated Papers

Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.

Martins PM et al.

Investigative Ophthalmology & Visual Science, 2026

41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Marta A et al.

Npj Genomic Medicine, 2025

39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
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