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- B680531da44fd2ccea440c142996b3f83 NCIT_P378 "NCI" @default.
- B680531da44fd2ccea440c142996b3f83 type Axiom @default.
- B680531da44fd2ccea440c142996b3f83 annotatedProperty IAO_0000115 @default.
- B680531da44fd2ccea440c142996b3f83 annotatedSource NCIT_C181641 @default.
- B680531da44fd2ccea440c142996b3f83 annotatedTarget "Human SUPT16H wild-type allele is located in the vicinity of 14q11.2 and is approximately 33 kb in length. This allele, which encodes FACT complex subunit SPT16 protein, is involved in chromatin stability, mRNA elongation, DNA replication and DNA repair. Mutation of the gene is associated with neurodevelopmental disorder with dysmorphic facies and thin corpus callosum." @default.