KIAA0845 protein [Homo sapiens]

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Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. [Sci Rep. 2022]
Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset.
Theunissen F, Anderton RS, Mastaglia FL, James I, Bedlack R, Akkari PA. Sci Rep. 2022 Aug 30; 12(1):14739. Epub 2022 Aug 30.
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. [J Hum Genet. 2022]
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M, Higuchi Y, Okamoto Y, Yuan J, Yoshimura A, Takei J, Taniguchi T, Hiramatsu Y, Sakiyama Y, Hashiguchi A, et al. J Hum Genet. 2022 Jul; 67(7):399-403. Epub 2022 Jan 28.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype. [J Neurol Neurosurg Psychiatry....]
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, et al. J Neurol Neurosurg Psychiatry. 2022 Jan; 93(1):48-56. Epub 2021 Sep 13.

RefSeq genomic sequence
See the genomic reference sequence for the NEFH gene (NG_008404.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the NEFH gene.

Nucleotide
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Protein