Varaico: Literature-Extracted Genetic Variants

Gene:FLVCR1
Variant:p.R54insFs
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FLVCR1

NM_014053.4:p.R54insFs

Associated Papers

New Phenotype in Two Siblings with Familial FLVCR1 Mutation: Neurotrophic Keratopathy.

Dertsiz Kozan B et al.

Turkish Journal of Ophthalmology, 2025

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Lopez-de la Rosa A et al.

Orphanet Journal of Rare Diseases, 2024

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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."