Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.D1462N
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ZNF469

NM_001367624.2:p.D1462N

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

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.

Song C et al.

Ophthalmic Genetics, 2025

Whole-exome sequencing screening for candidate genes and variants associated with primary sporadic keratoconus in Chinese patients.

Song C et al.

Experimental Eye Research, 2024

Variants in the ZNF469 gene in families with Brittle cornea syndrome and keratoconus.

Lin Q et al.

Heliyon, 2024

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