Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.F717S
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ZNF469

NM_001367624.2:p.F717S

Associated Papers

Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome.

Micheal S et al.

Cornea, 2019

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.

Khan AO et al.

Ophthalmic Genetics, 2012

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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."