nebulin isoform X12 [Homo sapiens]

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Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects. [Acta Neuropathol. 2024]
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Karimi E, Gohlke J, van der Borgh M, Lindqvist J, Hourani Z, Kolb J, Cossette S, Lawlor MW, Ottenheijm C, Granzier H. Acta Neuropathol. 2024 Apr 18; 147(1):72. Epub 2024 Apr 18.
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation. [Neuromuscul Disord. 2021]
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation.
Rocha ML, Dittmayer C, Uruha A, Korinth D, Chaoui R, Schlembach D, Rossi R, Pelin K, Suk EK, Schmid S, et al. Neuromuscul Disord. 2021 Mar; 31(3):239-245. Epub 2020 Dec 5.
An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene. [Stem Cell Res. 2020]
An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
Ma Y, Zhang H, Li X, Yang X, Li Y, Guan J, Lv Y, Gai Z, Liu Y. Stem Cell Res. 2020 Mar; 43:101729. Epub 2020 Feb 4.

RefSeq genomic sequence
See the genomic reference sequence for the NEB gene (NG_009382.2).
RefSeq mRNA
See reference mRNA sequence for the NEB gene (XM_005246599.3).
RefSeq protein isoforms
See 88 reference sequence protein isoforms for the NEB gene.

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Protein