Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.T49delFs
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FZD5

NM_003468.4:p.T49delFs

Associated Papers

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

Holt R et al.

Ophthalmic Genetics, 2022

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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."