Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.Q77R
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CAPN5

NM_004055.5:p.Q77R

Associated Papers

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.

Maccora I et al.

Ocular Immunology and Inflammation, 2024

Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.

Bjeloš M et al.

International Journal of Molecular Sciences, 2024

Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.

Li AS et al.

American Journal of Ophthalmology, 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."