Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.E687K
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ZNF469

NM_001367624.2:p.E687K

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

Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.

Yu X et al.

Molecular Vision, 2017

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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."