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- B42936e8cfbccbd8fe7e28347aafe2138 NCIT_P378 "NCI" @default.
- B42936e8cfbccbd8fe7e28347aafe2138 type Axiom @default.
- B42936e8cfbccbd8fe7e28347aafe2138 annotatedProperty IAO_0000115 @default.
- B42936e8cfbccbd8fe7e28347aafe2138 annotatedSource NCIT_C127869 @default.
- B42936e8cfbccbd8fe7e28347aafe2138 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.