Varaico: Literature-Extracted Genetic Variants

Gene:ZNF469
Variant:p.Q1906*
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ZNF469

NM_001367624.2:p.Q1906*

Associated Papers

Brittle cornea syndrome: A novel mutation.

Geng X et al.

Heliyon, 2024

A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers.

Arce-González R et al.

International Ophthalmology, 2023

Does brittle cornea syndrome have a bone fragility phenotype?

Cundy T et al.

Bone Reports, 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."