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A novel BCAP31 variant associated with nonsyndromic auditory neuropathy spectrum disorder: mitochondrial dysfunction, cisplatin sensitivity, and amenability to mitochondrial transplantation

Crossref DOI link: https://doi.org/10.1186/s12967-025-06610-3

Published Online: 2025-06-03

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Kim, Yehree

Kim, Yujin

Kim, Bong Jik https://orcid.org/0000-0002-6384-2171
Yu, Shin-Hye

Han, Jin Hee

Kim, Minyoung

Yi, Nayoung

Lee, Seo-Eun

Kim, Ju Ang

Han, Kyuboem

Kim, Chun-Hyung

Kang, Young Cheol

Choi, Byung Yoon
Funding

Funding for this research was provided by:

Ministry of Education (NRF-2022R1A2C2006061 and NRF-2017R1A5A2014768, 2021R1A2C2092038, RS-2023-0021971031482092640001)

Ministry of Science and ICT, South Korea (RS-2023-00283926, RS-2024-00355990, NRF-2022M3A9G1014007)

Ministry of Trade, Industry and Energy (K_G012002572001)

Seoul National University Bundang Hospital (13-2022-0010,02-2017-0060, 16-2023-0002, 13-2023-0002, 16-2022-0005, 13-2024-0004 and 13-2017-0013, 16-2024-0011)

Chungnam National University (research fund of Chungnam National University)
License Information

Text and Data Mining valid from 2025-06-03

Version of Record valid from 2025-06-03
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Article History

Received: 16 March 2025

Accepted: 13 May 2025

First Online: 3 June 2025

Declarations

:

: The Institutional Review Board of Seoul National University Bundang Hospital (IRB-B‐ 1007‐105‐402) and the Public Institutional Review Board (IRB) designated by the Ministry of Health and Welfare, Korea (IRB No. P01-202002-31-008) approved the study. All participants or their legal guardians signed written informed consent for study participation.

: Not applicable.

: The authors declare that they have no competing interests.

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