Homo sapiens C9orf72-SMCR8 complex subunit (C9orf72), transcript varia - Nucleotide

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Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions. [Int J Mol Sci. 2024]
Unveiling New Genetic Variants Associated with Age at Onset in Alzheimer's Disease and Frontotemporal Lobar Degeneration Due to C9orf72 Repeat Expansions.
Longobardi A, Bellini S, Nicsanu R, Pilotto A, Geviti A, Facconi A, Tolassi C, Libri I, Saraceno C, Fostinelli S, et al. Int J Mol Sci. 2024 Jul 7; 25(13). Epub 2024 Jul 7.
Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons. [Stem Cell Reports. 2024]
Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons.
Scaber J, Thomas-Wright I, Clark AJ, Xu Y, Vahsen BF, Carcolé M, Dafinca R, Farrimond L, Isaacs AM, Bennett DL, et al. Stem Cell Reports. 2024 Jul 9; 19(7):957-972. Epub 2024 Jun 13.
Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. [Nucleic Acids Res. 2024]
Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand.
Błaszczyk L, Ryczek M, Das B, Mateja-Pluta M, Bejger M, Śliwiak J, Nakatani K, Kiliszek A. Nucleic Acids Res. 2024 Jun 24; 52(11):6707-6717.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the C9orf72 gene.
RefSeq protein product
See the reference protein sequence for guanine nucleotide exchange factor C9orf72 isoform a (NP_060795.1).

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Protein sequence from Nucleotide coding region
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Nucleotide