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Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.

Yoel Hirsch,Wendy K. K. Chung,Sergey Novoselov,Louis H. Weimer,Alexander Rossor,Charles A. LeDuc, Amanda J. McPartland,Ernesto Cabrera,Josef Ekstein,Sholem Scher,Rick F. Nelson,Giampietro Schiavo,Lindsay B. Henderson, Kevin T. A. Booth

International Journal of Molecular Sciences（2023）

引用 0|浏览3
关键词
CMT,cytoplasmic dynein,microtubule-based transport,hearing loss,Ashkenazi Jewish
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