Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion> ?p ?o ?g. }
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- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion type Assertion NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_head.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion description "[Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion evidence source_evidence_curated NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion SIO_000772 10732802 NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion wasDerivedFrom uniprot-20130724 NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion wasGeneratedBy ECO_0000218 NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.