Varaico: Literature-Extracted Genetic Variants

Gene:CYP4V2
Variant:p.R225Splc
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CYP4V2

NM_207352.4:p.R225Splc

Associated Papers

Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.

Park HS et al.

Journal of Korean Medical Science, 2025

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D et al.

Jama Network Open, 2024

38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Kim YJ et al.

Genes, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."