Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.S277R
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PRPF31

NM_015629.4:p.S277R

Associated Papers

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.

Matczyńska E et al.

Genes, 2024

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S2

DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.

Huryn LA et al.

Ophthalmology, 2019

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