Varaico: Literature-Extracted Genetic Variants

Gene:VWA8
Variant:p.G1024R
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VWA8

NM_015058.2:p.G1024R

Associated Papers

von Willebrand factor A domain containing 8 (VWA8)- associated retinitis pigmentosa: description of a novel case and expansion of the phenotype.

Chacon-Camacho OF et al.

International Ophthalmology, 2025

Modelling Peroxisomal Disorders in Zebrafish.

Jiang CS et al.

Cells, 2025

Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.

Kong L et al.

Journal of Medical Genetics, 2023

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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."