Varaico: Literature-Extracted Genetic Variants

Gene:DVL1
Variant:p.Q536_Q541delFs
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DVL1

NM_001330311.2:p.Q536_Q541delFs

Associated Papers

A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.

Hu R et al.

Molecular Genetics & Genomic Medicine, 2022

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

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