neurofascin isoform 9 precursor [Homo sapiens]

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Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant. [Int J Pediatr Otorhinolaryngol...]
Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant.
Harper JL, Wilson TE, Mitchell RM. Int J Pediatr Otorhinolaryngol. 2020 Apr; 131:109863. Epub 2020 Jan 7.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. [Brain. 2019]
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, et al. Brain. 2019 Oct 1; 142(10):2948-2964.
Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy. [Brain. 2017]
Autoantibodies to nodal isoforms of neurofascin in chronic inflammatory demyelinating polyneuropathy.
Delmont E, Manso C, Querol L, Cortese A, Berardinelli A, Lozza A, Belghazi M, Malissart P, Labauge P, Taieb G, et al. Brain. 2017 Jul 1; 140(7):1851-1858.

RefSeq genomic sequence
See the genomic reference sequence for the NFASC gene (NG_029938.1).
RefSeq protein isoforms
See 100 reference sequence protein isoforms for the NFASC gene.

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Protein