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Human C9orf72 wild-type allele is located in the vicinity of 9p21.1 and is approximately 27 kb in length. This allele, which encodes uncharacterized protein C9orf72, may be involved in cell death. An expanded GGGGCC hexanucleotide repeat in the non-coding region of the C9orf72 gene is associated with amyotrophic lateral sclerosis and frontotemporal dementia.
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