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Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects

Xue Gao; Ying Ma; Wei-Qian Wang; Guo-Jian Wang; Kun Yang; Jin-Cao Xu; Sha-Sha Huang; Xiang Wang; Li-Min Hu; Xi Wang; Qiu-Quan Wang; Zhen-Dong Wang; Ming-Yu Han; Pu Dai; Yong-Yi Yuan
Human Genetics · Vol. 144, Issue 9-10 · pp. 929-947 · 2025
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2025-10-01
Publication Year2025
Volume144
Issue9-10
Pages929-947
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-025-02774-6

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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