Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_assertion> ?p ?o ?g. }
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- NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_assertion type Assertion NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_head.
- NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_assertion description "[A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_provenance.
- NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_assertion evidence source_evidence_curated NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_provenance.
- NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_assertion SIO_000772 16679074 NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_provenance.
- NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_assertion wasDerivedFrom uniprot-2016 NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_provenance.
- NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_assertion wasGeneratedBy ECO_0000218 NP4510.RA67CQuFJjqchiJg6iQyzEgBGgk57T7W2c1t7UA6ZKRiY130_provenance.