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- Bbe3c8b5846db0e29a2c476ea8e8756dc NCIT_P378 "NCI" @default.
- Bbe3c8b5846db0e29a2c476ea8e8756dc type Axiom @default.
- Bbe3c8b5846db0e29a2c476ea8e8756dc annotatedProperty IAO_0000115 @default.
- Bbe3c8b5846db0e29a2c476ea8e8756dc annotatedSource NCIT_C127869 @default.
- Bbe3c8b5846db0e29a2c476ea8e8756dc annotatedTarget "Human SMN2 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes survival motor neuron protein, is involved in the assembly of small nuclear ribonucleoproteins. Mutation of the gene is associated with sporadic adult-onset lower motor neuron disease (LMND) and a modified form of spinal muscular atrophy type 3." @default.