Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.G750delFs
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ROR2

NM_004560.4:p.G750delFs

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

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

Li CM et al.

Yi Chuan = Hereditas, 2011

A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

Lv D et al.

Journal of Human 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

[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].

Yang W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004

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

Afzal AR et al.

Human Mutation, 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

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Afzal AR et al.

Nature Genetics, 2000

Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

Oldridge M 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."