Varaico: Literature-Extracted Genetic Variants

Gene:KRT12
Variant:p.V410G
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KRT12

NM_000223.4:p.V410G

Associated Papers

Identification of pathogenic variants in six Chinese families with keratoconus of autosomal dominant inheritance: pathogenicity analysis and variable phenotype.

Huang X et al.

International Ophthalmology, 2025

A novel variant in the keratin 12 gene in a four-generation Chinese family with high myopia.

Lin Q et al.

Eye (london, England), 2024

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1
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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."