Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.L89delFs
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GJB2

NM_004004.6:p.L89delFs

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 three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

Meyer NC et al.

American Journal of Medical Genetics. Part A, 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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