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Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene

Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing impairment. Several transgenic mice with different Slc26a4 variants have been generated. However, none have recapitulated the auditory phenotypes in humans. Of the SLC26A4 variants identified thus far, the p.T721M va...

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Detalles Bibliográficos
Autores principales: Hu, Chin-Ju, Lu, Ying-Chang, Tsai, Cheng-Yu, Chan, Yen-Hui, Lin, Pei-Hsuan, Lee, Yi-Shan, Yu, I.-Shing, Lin, Shu-Wha, Liu, Tien-Chen, Hsu, Chuan-Jen, Yang, Ting-Hua, Cheng, Yen-Fu, Wu, Chen-Chi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8545921/
https://www.ncbi.nlm.nih.gov/pubmed/34697379
http://dx.doi.org/10.1038/s41598-021-00448-7