Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.Q760*
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ROR2

NM_004560.4:p.Q760*

Associated Papers

A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.

Shao J et al.

Bmc Pediatrics, 2022

A new mutation in the gene ROR2 causes brachydactyly type B1.

Huang D et al.

Gene, 2014

A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B.

Habib R et al.

Clinical Dysmorphology, 2013

[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1].

Li CM et al.

Yi Chuan = Hereditas, 2011

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

Ben-Shachar S et al.

Clinical Genetics, 2009

Brachydactyly type B1: report of a family with de novo ROR2 mutation.

Hamamy H et al.

Clinical Genetics, 2006

[Genetic analysis of the UGT1A1 gene mutation sites in a Chinese family suffered from Gilbert's syndrome].

Yu LH et al.

Yi Chuan = Hereditas, 2006

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

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."