A Mutation in the CACNA1F Gene Found by Whole Exome Sequencing (WES) and In Silico Analysis in an Iranian Family with Consanguineous Relationships.
Vahid OmarmeliMarjan AssefiKai-Uwe LewandrowskiAlireza SharafshahHanieh FaizmahdaviParichehr DarabiAmir AmiriNasrin MansouriPublished in: Current aging science (2024)
Conclusively, the current study emphasizes the non-pathogenic effect of missense mutation R1362Q in the 35th exon of CACNA1F in association with ocular diseases. This will ensure the reports of this mutation as healthy instead of uncertain in the literature and databanks.