Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.E2013fs
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TECTA

NM_005422.4:p.E2013fs

Associated Papers

A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.

Yang Y et al.

Human Molecular Genetics, 2025

40583560 (PubMed )
Supplement: tab_s3_all_known_mutations_of_tecta-5-9_ddaf109.pdf

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

Behlouli A et al.

International Journal of Pediatric Otorhinolaryngology, 2016

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

Su Y et al.

Plos One, 2014

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS et al.

Human Mutation, 2011

[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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