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- Bb6d17ee15fc2bf806d2cb82df8e91731 NCIT_P378 "NCI" @default.
- Bb6d17ee15fc2bf806d2cb82df8e91731 type Axiom @default.
- Bb6d17ee15fc2bf806d2cb82df8e91731 annotatedProperty IAO_0000115 @default.
- Bb6d17ee15fc2bf806d2cb82df8e91731 annotatedSource NCIT_C92162 @default.
- Bb6d17ee15fc2bf806d2cb82df8e91731 annotatedTarget "Human MEF2C wild-type allele is located in the vicinity of 5q14 and is approximately 186 kb in length. This allele, which encodes myocyte-specific enhancer factor 2C protein, is involved in the mediation of cardiac morphogenesis, muscle cell differentiation and vasculogenesis. Mutations and deletions of the gene are associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation." @default.