A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.
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| Title: | A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss. |
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| Authors: | Peng LT; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China.; Chinese Institute for Brain Research, Beijing, China.; Postgraduate Training Base of Jinzhou Medical University (The PLA Rocket Force Characteristic Medical Center), Beijing, China., Wang WQ; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China., Huang SS; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Beijing Key Lab of Hearing Impairment Prevention and Treatment, Ministry of Education, Beijing, China., Liu M; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China., Yang SY; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Beijing Key Lab of Hearing Impairment Prevention and Treatment, Ministry of Education, Beijing, China., Kang DY; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Beijing Key Lab of Hearing Impairment Prevention and Treatment, Ministry of Education, Beijing, China., Wang X; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China.; Chinese Institute for Brain Research, Beijing, China.; Postgraduate Training Base of Jinzhou Medical University (The PLA Rocket Force Characteristic Medical Center), Beijing, China., Gao X; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China., Yuan YY; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, China.; National Clinical Research Center for Otolaryngologic Diseases, Beijing, China.; Beijing Key Lab of Hearing Impairment Prevention and Treatment, Ministry of Education, Beijing, China., Xu JC; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China. |
| Source: | Journal of clinical laboratory analysis [J Clin Lab Anal] 2026 Jan; Vol. 40 (1), pp. e70137. Date of Electronic Publication: 2025 Dec 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825 (Electronic) Linking ISSN: 08878013 NLM ISO Abbreviation: J Clin Lab Anal Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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