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Overlooked KCNQ4 variants augment the risk of hearing loss

Pathogenic variants of KCNQ4 cause symmetrical, late-onset, progressive, high-frequency-affected hearing loss, which eventually involves all frequencies with age. To understand the contribution of KCNQ4 variants to hearing loss, we analyzed whole-exome and genome sequencing data from patients with h...

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Detalles Bibliográficos
Autores principales: Oh, Kyung Seok, Roh, Jae Won, Joo, Sun Young, Ryu, Kunhi, Kim, Jung Ah, Kim, Se Jin, Jang, Seung Hyun, Koh, Young Ik, Kim, Da Hye, Kim, Hye-Youn, Choi, Murim, Jung, Jinsei, Namkung, Wan, Nam, Joo Hyun, Choi, Jae Young, Gee, Heon Yung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167218/
https://www.ncbi.nlm.nih.gov/pubmed/37009795
http://dx.doi.org/10.1038/s12276-023-00976-4