Varaico: Literature-Extracted Genetic Variants

Gene:TECTA
Variant:p.G2000Splc
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TECTA

NM_005422.4:p.G2000Splc

Associated Papers

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

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Morgan A et al.

Frontiers in Genetics, 2018

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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."