Varaico: Literature-Extracted Genetic Variants

Gene:ROR2
Variant:p.A748delFs
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ROR2

NM_004560.4:p.A748delFs

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

[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

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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."