Varaico: Literature-Extracted Genetic Variants

Gene:DVL1
Variant:p.L507delFs
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DVL1

NM_001330311.2:p.L507delFs

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

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Bunn KJ et al.

American Journal of Human Genetics, 2015

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