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Schematic view of the domain structure of neuronal and glial human Neurofascin isoforms, Nfasc186 (NM_001005388.2) and Nfasc155 (NM_001160331.1), showing the exons that encode the five Fibronectin Type III (FNIII) repeats. The homozygous rs755160624 variant found in the proband creates a stop codon in the third FNIII repeat specific to the glial Nfasc155 isoform.
