A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through nextâgeneration sequencing and review of the literature
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DOI: 10.1111/jns.12310
Abstract: Neurofilaments are neuronâspecific intermediate filaments essential for the radial growth of axons during development and the maintenance of axonal diameter. Pathogenic variants of Neurofilament Light (NEFL) are associated with CMT1F, CMT2E, and CMTDIG and have… read more here.
Keywords: nefl responsible; deafness associated; pathogenic variant; variant nefl ... See more keywords