Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.D72N
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CAPN5

NM_004055.5:p.D72N

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 investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS06_het

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf

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."