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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41351289 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Novel Frameshift Variant c.1023&#95;1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Peng+LT%22">Peng LT</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wang+WQ%22">Wang WQ</searchLink>; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Huang+SS%22">Huang SS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Liu+M%22">Liu M</searchLink>; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yang+SY%22">Yang SY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kang+DY%22">Kang DY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gao+X%22">Gao X</searchLink>; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yuan+YY%22">Yuan YY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Xu+JC%22">Xu JC</searchLink>; Department of Otolaryngology, The PLA Rocket Force Characteristic Medical Center, Beijing, China. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228801384%22">Journal of clinical laboratory analysis</searchLink> [J Clin Lab Anal] 2026 Jan; Vol. 40 (1), pp. e70137. <i>Date of Electronic Publication: </i>2025 Dec 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8801384 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-2825 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208878013%22">08878013 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Lab Anal <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41351289 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jcla.70137 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e70137 Titles: – TitleFull: A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Peng LT – PersonEntity: Name: NameFull: Wang WQ – PersonEntity: Name: NameFull: Huang SS – PersonEntity: Name: NameFull: Liu M – PersonEntity: Name: NameFull: Yang SY – PersonEntity: Name: NameFull: Kang DY – PersonEntity: Name: NameFull: Wang X – PersonEntity: Name: NameFull: Gao X – PersonEntity: Name: NameFull: Yuan YY – PersonEntity: Name: NameFull: Xu JC IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2026 Jan Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1098-2825 Numbering: – Type: volume Value: 40 – Type: issue Value: 1 Titles: – TitleFull: Journal of clinical laboratory analysis Type: main |
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