Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.Y935Y
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TECTA

NM_005422.4:p.Y935Y

Associated Papers

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.

Zhang D et al.

Annals of Human Genetics, 2022

35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Lei P et al.

Plos One, 2022

36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.

Yamamoto N et al.

Orphanet Journal of Rare Diseases, 2017

28946916 (PubMed )
Supplement: 13023_2017_708_MOESM5_ESM.xlsx › Sheet1

A novel TECTA mutation causes ARNSHL.

Asgharzade S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.

Choi BY et al.

Plos One, 2014

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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."