Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_assertion> ?p ?o ?g. }
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- NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_assertion type Assertion NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_head.
- NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_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." NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_provenance.
- NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_assertion evidence source_evidence_curated NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_provenance.
- NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_assertion SIO_000772 16679074 NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_provenance.
- NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_assertion wasDerivedFrom uniprot-20130724 NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_provenance.
- NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_assertion wasGeneratedBy ECO_0000218 NP3882.RAr4gqwrBe9ZUAcrq5aH9WK2D6au8n1hldU3orO4jfhnk130_provenance.