Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.E316K
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ZNF469

NM_001367624.2:p.E316K

Associated Papers

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

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

Yu X et al.

Molecular Vision, 2017

Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus.

Vincent AL et al.

Investigative Ophthalmology & Visual Science, 2014

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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."