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- source_evidence_literature type ECO_0000212 NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.
- NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_assertion description "[Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.
- NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_assertion evidence source_evidence_literature NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.
- NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_assertion SIO_000772 11985387 NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.
- NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_assertion wasDerivedFrom befree-2016 NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.
- NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_assertion wasGeneratedBy ECO_0000203 NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.
- befree-2016 importedOn "2016-02-19" NP353503.RA_M9pUE50sRXhCaGLKRYRUkrAercuIDoj1MrAGE3girg130_provenance.