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- NCIT_C96449 IAO_0000115 "Human DES wild-type allele is located in the vicinity of 2q35 and is approximately 8 kb in length. This allele, which encodes desmin protein, plays a role in muscle cell contraction. Mutation of the gene is associated with myopathy myofibrillar desmin-related, cardiomyopathy dilated type 1I and neurogenic scapuloperoneal syndrome Kaeser type." @default.
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- NCIT_C96449 NCIT_P107 "DES wt Allele" @default.
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- NCIT_C96449 hasExactSynonym "CSM1" @default.
- NCIT_C96449 hasExactSynonym "CSM2" @default.
- NCIT_C96449 hasExactSynonym "DES wt Allele" @default.
- NCIT_C96449 hasExactSynonym "Desmin wt Allele" @default.
- NCIT_C96449 hasExactSynonym "FLJ12025" @default.
- NCIT_C96449 hasExactSynonym "FLJ39719" @default.
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- NCIT_C96449 label "DES wt Allele" @default.
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