Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.P2009delFs
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ZNF469

NM_001367624.2:p.P2009delFs

Associated Papers

Brittle cornea syndrome: A novel mutation.

Geng X et al.

Heliyon, 2024

A mouse model of brittle cornea syndrome caused by mutation in Zfp469.

Stanton CM et al.

Disease Models & Mechanisms, 2021

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Dhooge T et al.

Human Mutation, 2021

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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."