Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.
- NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_assertion wasGeneratedBy ECO_0000203 NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.
- NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_assertion wasDerivedFrom befree-20150227 NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.
- NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_assertion SIO_000772 17003072 NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.
- NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_assertion evidence source_evidence_literature NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.
- NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_assertion description "[Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP597217.RAzQ5sTA0xvVzmEpx30B-Om-OBR0qKSl6NA3x14cd_mg4130_provenance.