Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_assertion> ?p ?o ?g. }
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- NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_assertion type Assertion NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_head.
- NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_assertion wasGeneratedBy ECO_0000203 NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_provenance.
- NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_assertion wasDerivedFrom befree-2016 NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_provenance.
- NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_assertion SIO_000772 17003072 NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_provenance.
- NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_assertion evidence source_evidence_literature NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_provenance.
- NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_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." NP571315.RAKqIBqyEYBg5PhO0_uqwrTlaV6PN2rAWRluffjCqcgiU130_provenance.