Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.
- befree-2016 importedOn "2016-02-19" NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.
- NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_assertion wasGeneratedBy ECO_0000203 NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.
- NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_assertion wasDerivedFrom befree-2016 NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.
- NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_assertion SIO_000772 17003072 NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.
- NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_assertion evidence source_evidence_literature NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.
- NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_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." NP571313.RA45-6VLQZeWE9yHFt1TzQpnzkzMy5OV8kdWSdn2vt3RU130_provenance.