Article

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

2023-11-01

Abstract excerpt

<title>Abstract</title> <p>Purpose The aim of this study was to determine the genetic cause of early onset autosomal dominant hearing loss segregating in five-generation kindred of Chinese descent and provide preimplantation genetic testing for them. Methods Clinical examination, pedigree analysis and exome sequencing were carried out on the family. Minigene-based splicing analysis, in vivo RNA analysis and pre...

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Literature Corpus work: 3d81e63d-a387-5288-b84e-f15db7839e8c
DOI: 10.21203/rs.3.rs-3510790/v1

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