Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_assertion> ?p ?o ?g. }
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- NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_assertion type Assertion NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_head.
- NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_assertion wasGeneratedBy ECO_0000203 NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_provenance.
- NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_assertion wasDerivedFrom lhgdn-20090331 NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_provenance.
- NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_assertion SIO_000772 17594340 NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_provenance.
- NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_assertion evidence source_evidence_literature NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_provenance.
- NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_assertion description "[7 new SPG4 point mutations (including missense mutations R364T, L380H, M579H) and 2 new deletions are reported/mutations and deletions are a significant cause of hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP204763.RAcDMC6hwVUBR4TBS5l9KoSuK-cn5Wd9uHkWG7qdKOSLA130_provenance.