Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity.
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| Title: | Novel splice-site variants in TMPRSS3 impair hearing via exon skipping and abrogated protease activity. |
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| Authors: | Wang X; Postgraduate Training Base of Jinzhou Medical University: The PLA Rocket Force Characteristic Medical Center, Beijing, China.; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Wang WQ; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Huang SS; Senior Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; State Key Laboratory of Hearing and Balance Science, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Key Laboratory of Hearing Science, Ministry of Education, Beijing, China.; Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China., Wang X; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Hu LM; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Liu X; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Wang QQ; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Wang ZD; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Xu JC; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China., Yuan YY; Senior Department of Otolaryngology Head and Neck Surgery, the 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; State Key Laboratory of Hearing and Balance Science, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Key Laboratory of Hearing Science, Ministry of Education, Beijing, China.; Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Beijing, China., Gao X; Postgraduate Training Base of Jinzhou Medical University: The PLA Rocket Force Characteristic Medical Center, Beijing, China.; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, Beijing, China. |
| Source: | Frontiers in genetics [Front Genet] 2026 Mar 18; Vol. 17, pp. 1791840. Date of Electronic Publication: 2026 Mar 18 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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