Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.D166D
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ROR2

NM_004560.4:p.D166D

Associated Papers

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.

Afzal AR et al.

Human Mutation, 2003

Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.

Schwabe GC et al.

American Journal of Human Genetics, 2000

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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."