Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.A3004_S3009del0
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ZNF469

NM_001367624.2:p.A3004_S3009del0

Associated Papers

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

Davidson AE et al.

Investigative Ophthalmology & Visual Science, 2015

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Lechner J et al.

Human Molecular Genetics, 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."