Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1040fs
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RPGR

NM_001034853.2:p.E1040fs

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

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Nassisi M et al.

International Journal of Molecular Sciences, 2022

Mutation Analysis of the RPGR Gene in a Chinese Cohort.

Liu HL et al.

Frontiers in Genetics, 2022

35432464 (PubMed )
Supplement: DataSheet4.PDF
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