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NCI: Human SKI wild-type allele is located within 1q22-q24 and is approximately 81 kb in length. This allele, which encodes ski oncogene protein, is involved in neural tube development and muscle differentiation. Deletion of the gene may be associated with congenital fiber-type disproportion myopathy and dilated cardiomyopathy. Aberrant elevated expression of the gene may play a role in tumorigenesis. (OMIM)
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