Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.
- NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_assertion description "[Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of -dystroglycan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.
- NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_assertion evidence source_evidence_curated NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.
- NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_assertion SIO_000772 22522421 NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.
- NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_assertion wasDerivedFrom ctd_human-20130708 NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.
- NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_assertion wasGeneratedBy ECO_0000218 NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP20478.RAotROFH0Rb-aVnXIYDG2B3RyV83zHeIEE-k9k2tTHqks130_provenance.