Varaico: Literature-Extracted Genetic Variants

Gene:WNT5A
Variant:p.C83W
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WNT5A

NM_003392.7:p.C83W

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

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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