Varaico: Literature-Extracted Genetic Variants

Gene:FZD5
Variant:p.P267L
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FZD5

NM_003468.4:p.P267L

Associated Papers

frizzled 5 mutant zebrafish are genetically sensitised to developing microphthalmia and coloboma.

Monfries C et al.

Disease Models & Mechanisms, 2025

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

Cortés-González V et al.

Human Genetics, 2024

Initiation of Wnt signaling: control of Wnt coreceptor Lrp6 phosphorylation/activation via frizzled, dishevelled and axin functions.

Zeng X et al.

Development (cambridge, England), 2008

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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."