Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.
Journal Information
Full Title: BMC Med Genomics
Abbreviation: BMC Med Genomics
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"data availability the datasets generated and analysed during the current study are available in the clinvar repository scv002822952 ( https://www ncbi nlm nih gov/clinvar/variation/vcv001895419 1 ) and scv002822953 ( https://www ncbi nlm nih gov/clinvar/variation/vcv001895420 1 )."
"Declarations Ethics approval and consent to participateThe study adhered to the Declaration of Helsinki throughout the protocol. All procedures in this study were approved by the Institutional Review Board of Seoul National University Hospital (IRB-H-0905-041-281). The study was explained to all participants and written informed consent was obtained from all participants, or from the legal guardians of pediatric participants. Competing interestsThe authors declare no competing interests. Consent for publicationNot applicable. Competing interests The authors declare no competing interests."
"Funding This research was supported and funded by SNUH Kun-hee Lee Child Cancer & Rare Disease Project, Republic of Korea (grant number: FP-2022-00001-004) and SNUH Research Fund (grant number: 04-2022-4010 & 04-2022-3070 to S-Y. Lee)."
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Last Updated: Aug 05, 2025