Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.W720*
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ROR2

NM_004560.4:p.W720*

Associated Papers

A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.

Malik S et al.

American Journal of Medical Genetics. Part A, 2022

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Aglan M et al.

American Journal of Medical Genetics. Part A, 2015

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.

Schwarzer W et al.

Human Molecular Genetics, 2009

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

Ben-Shachar S et al.

Clinical Genetics, 2009

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

Afzal AR et al.

Human Mutation, 2003

Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans.

Yoda A et al.

Journal of Receptor and Signal Transduction Research, 2003

Robinow syndrome.

Patton MA et al.

Journal of Medical Genetics, 2002

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

Schwabe GC et al.

American Journal of Human Genetics, 2000

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H et al.

Nature 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."