Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.L2315delFs
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PRPF8

NM_006445.4:p.L2315delFs

Associated Papers

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Zampaglione E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions
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