Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.F2317delFs
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PRPF8

NM_006445.4:p.F2317delFs

Associated Papers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J et al.

Genes, 2022

35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf
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