Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_assertion> ?p ?o ?g. }
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- NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_assertion type Assertion NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_head.
- NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_assertion description "[In summary, this is the first report of mutations in the human SREBP-2 gene to suggest that these and/or other mutations in this key regulator of cholesterol metabolism are associated with hypercholesterolaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_provenance.
- NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_assertion evidence source_evidence_literature NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_provenance.
- NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_assertion SIO_000772 11950857 NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_provenance.
- NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_assertion wasDerivedFrom befree-20150227 NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_provenance.
- NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_assertion wasGeneratedBy ECO_0000203 NP712734.RAa0poctTMUBVg86QN-d0Gt0_Q92rsBH1Zb-BPSZIZ7sw130_provenance.