Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.R822*
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RP1L1

NM_178857.6:p.R822*

Associated Papers

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

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