Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.E2013delFs
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TECTA

NM_005422.4:p.E2013delFs

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

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNA.

Yang Y et al.

Human Molecular Genetics, 2024

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

A novel TECTA mutation causes ARNSHL.

Asgharzade S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

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

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.

Alasti F et al.

International Journal of Pediatric Otorhinolaryngology, 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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