Varaico: Literature-Extracted Genetic Variants

Gene:COL11A2
Variant:p.V89delFs
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COL11A2

NM_080680.3:p.V89delFs

Associated Papers

A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Su Y et al.

Plos One, 2014

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

[Linkage analysis of one family with autosomal dominant high myopia].

Chang JX et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

[Study on ABO gene polymorphism in Uighur nationality in Xinjiang of China].

Yu Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

[Mutation of GJB2 gene in nonsyndromic hearing impairment patients: analysis of 1190 cases].

Yu F et al.

Zhonghua Yi Xue Za Zhi, 2007

[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].

Jin T et al.

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

[Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].

Zhu B et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003

[Study on gamma-synuclein gene in patients with idiopathic Parkinson's disease].

Su JJ et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003

[A novel member of SH(2) signaling protein family: cloning and characterization of SH(2)A gene].

Dai S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002

[An extensive matrilineal nonsyndromic sensorineural deafness family and mtDNA 12SrRNA gene mutation].

Yan M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999

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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."