Varaico: Literature-Extracted Genetic Variants

Gene:PRPF6
Variant:p.P183L
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PRPF6

NM_012469.4:p.P183L

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
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