Varaico: Literature-Extracted Genetic Variants

Gene:WNT5A
Variant:p.Y86C
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WNT5A

NM_003392.7:p.Y86C

Associated Papers

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Zhang C et al.

Hgg Advances, 2022

35047859 (PubMed )
Supplement: mmc1.pdf

Craniofacial phenotypes associated with Robinow syndrome.

Conlon CJ et al.

American Journal of Medical Genetics. Part A, 2021

Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome.

Hosseini-Farahabadi S et al.

Journal of Dental Research, 2017

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

Roifman M et al.

Clinical Genetics, 2015

Disulfide bond requirements for active Wnt ligands.

MacDonald BT et al.

The Journal of Biological Chemistry, 2014

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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."