Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_assertion> ?p ?o ?g. }
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- NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_assertion type Assertion NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_head.
- NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_assertion description "[The new SPG7 gene mutation leads to a novel complicated autosomal recessive hereditary spastic paraparesis phenotype that widens the spectrum of different brain systems that are optionally affected in hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_provenance.
- NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_assertion evidence source_evidence_literature NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_provenance.
- NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_assertion SIO_000772 17646629 NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_provenance.
- NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_assertion wasDerivedFrom lhgdn-20090331 NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_provenance.
- NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_assertion wasGeneratedBy ECO_0000203 NP227458.RAVvfN_hHl5Az9KiE300n4LPvHp3l4d6159W21pW_EvME130_provenance.