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Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.
Dis Model Mech. 2023 Aug 1;16(8):dmm049757. doi: 10.1242/dmm.049757. Epub 2023 Aug 17.
Dis Model Mech. 2023.
PMID: 37165931
Free PMC article.
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Bademci G, Lachgar-Ruiz M, Deokar M, Zafeer MF, Abad C, Yildirim Baylan M, Ingham NJ, Chen J, Sineni CJ, Vadgama N, Karakikes I, Guo S, Duman D, Singh N, Harlalka G, Jain SP, Chioza BA, Walz K, Steel KP, Nasir J, Tekin M.
Bademci G, et al. Among authors: lachgar ruiz m.
Proc Natl Acad Sci U S A. 2022 Jun 28;119(26):e2204084119. doi: 10.1073/pnas.2204084119. Epub 2022 Jun 21.
Proc Natl Acad Sci U S A. 2022.
PMID: 35727972
Free PMC article.
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