Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.C3177delFs
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ZNF469

NM_001367624.2:p.C3177delFs

Associated Papers

Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.

Skalicka P et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2020

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