Article
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
International journal of molecular sciences - 17 May 2023
Hirsch Yoel, Chung Wendy K, Novoselov Sergey, Weimer Louis H, Rossor Alexander, LeDuc Charles A, McPartland Amanda J, Cabrera Ernesto, Ekstein Josef, Scher Sholem, Nelson Rick F, Schiavo Giampietro, Henderson Lindsay B, Booth Kevin T A
Abstract excerpt
Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of peripheral neuropathy and hearing loss in a large Ashkenazi Jewish family. Moreover, we assessed the production of the candidate protein via western blotting of lysates...
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