Pauliina Repo
7PUBLICATIONS
8CO-AUTHORS
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Publications (7)
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|Sep 16, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.Pauliina E Repo, Eveliina Jakkula, Juho Hiltunen
|Sep 30, 2024
Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.Pauliina E Repo, Eveliina Jakkula, Juho Hiltunen
|Nov 13, 2023
Functional assay for assessment of pathogenicity of BAP1 variants.Pauliina E Repo, Michael P Backlund, Tero T Kivelä
|Jun 08, 2023
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.Joni A Turunen, Ilpo S Tuisku, Pauliina Repo
|Apr 10, 2023
Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.Perttu J Liuska, Abdessallam Tadji, Pauliina Repo
|Sep 09, 2020
Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing.Pauliina Repo, Reetta-Stiina Järvinen, Eeva-Marja Sankila
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