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- B1d756018c77f863cc1dde23e3912a0d5 NCIT_P378 "NCI" @default.
- B1d756018c77f863cc1dde23e3912a0d5 type Axiom @default.
- B1d756018c77f863cc1dde23e3912a0d5 annotatedProperty IAO_0000115 @default.
- B1d756018c77f863cc1dde23e3912a0d5 annotatedSource NCIT_C177529 @default.
- B1d756018c77f863cc1dde23e3912a0d5 annotatedTarget "Human COL5A2 wild-type allele is located in the vicinity of 2q32.2 and is approximately 193 kb in length. This allele, which encodes collagen alpha-2(V) chain protein, plays a role in the formation of fibrillar collagen and the extracellular matrix. Mutation in the gene are associated with Ehlers-Danlos syndrome classic type 2." @default.