Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.N1304_S1305delFs
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PRPF8

NM_006445.4:p.N1304_S1305delFs

Associated Papers

Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.

Wang J et al.

Acta Ophthalmologica, 2022

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf
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