Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.T330delFs
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ROR2

NM_004560.4:p.T330delFs

Associated Papers

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Lima AR et al.

Human Mutation, 2022

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

Zhang C et al.

American Journal of Medical Genetics. Part A, 2021

Craniofacial phenotypes associated with Robinow syndrome.

Conlon CJ et al.

American Journal of Medical Genetics. Part A, 2021

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

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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."