Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.S1878S
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TECTA

NM_005422.4:p.S1878S

Associated Papers

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report.

Nam GS et al.

Bmc Medical Genetics, 2019

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

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

Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies.

Fujikawa T et al.

The Laryngoscope, 2010

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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."