Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Q175delFs
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PRPF31

NM_015629.4:p.Q175delFs

Associated Papers

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.

Matczyńska E et al.

Biomedicines, 2024

38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
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