Article

Toward the pathogenicity of the <i>SLC26A4</i> p.C565Y variant using a genetically driven mouse model

2020-04-29

Abstract excerpt

Recessive variants of the SLC26A4 gene are a common cause of hearing impairment worldwide. In the past, cell lines and transgenic mice have been widely used to investigate the pathogenicity associated with the SLC26A4 variants. However, discrepancies in the pathogenicity between humans and cell lines or transgenic mice have been documented for some of the SLC26A4 variants. For instance, the p.C565Y variant, whi...

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Literature Corpus work: 42b7813d-b0e1-5b1e-a46b-6a037b812247
DOI: 10.1101/2020.04.29.067918

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