Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.

Authors:
Cho SH; Yun Y; Lee DH; Cha JH; Lee SM and 6 more

Journal:
BMC Med Genomics

Publication Year: 2023

DOI:
10.1186/s12920-023-01766-7

PMCID:
PMC10704677

PMID:
38066485

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

Transparency Score
4/6
66.7% Transparent
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Evidence found in paper:

"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 )."

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Evidence found in paper:

"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."

Evidence found in paper:

"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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Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025