Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1014delFs
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RPGR

NM_001034853.2:p.E1014delFs

Associated Papers

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

Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration.

Gouveia N et al.

Scientific Reports, 2024

38956231 (PubMed )
Supplement: 41598_2024_66170_MOESM1_ESM.pdf
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