Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Discovery of deafness genes and elucidating their functions have substantially contributed to our understanding of hearing physiology and its pathologies. Here we report on DNA variants in MINAR2, encoding membrane integral NOTCH2-associated receptor 2, in four families underlying autosomal recessiv...

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Detalles Bibliográficos
Autores principales: Bademci, Guney, Lachgar-Ruiz, María, Deokar, Mangesh, Zafeer, Mohammad Faraz, Abad, Clemer, Yildirim Baylan, Muzeyyen, Ingham, Neil J., Chen, Jing, Sineni, Claire J., Vadgama, Nirmal, Karakikes, Ioannis, Guo, Shengru, Duman, Duygu, Singh, Nitu, Harlalka, Gaurav, Jain, Shirish P., Chioza, Barry A., Walz, Katherina, Steel, Karen P., Nasir, Jamal, Tekin, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245706/
https://www.ncbi.nlm.nih.gov/pubmed/35727972
http://dx.doi.org/10.1073/pnas.2204084119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245706/
https://www.ncbi.nlm.nih.gov/pubmed/35727972
http://dx.doi.org/10.1073/pnas.2204084119

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