Varaico: Literature-Extracted Genetic Variants

Gene:PRPF3
Variant:p.V476Splc
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PRPF3

NM_004698.4:p.V476Splc

Associated Papers

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1

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

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