Varaico: Literature-Extracted Genetic Variants

Gene:DVL1
Variant:p.G538_S539insFs
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DVL1

NM_004421.3:p.G538_S539insFs

Associated Papers

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics.

Zhang C et al.

Biorxiv : the Preprint Server for Biology, 2025

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.

Shayota BJ et al.

American Journal of Medical Genetics. Part A, 2020

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

White JJ et al.

American Journal of Human Genetics, 2018

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