Mutation update: The spectra of PLEC sequence variants and related plectinopathies
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DOI: 10.1002/humu.24434
Abstract: Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N‐terminal domain, the Rod domain, and the C‐terminal… read more here.
Keywords: plec; mutation update; variants related; ebs ... See more keywords