Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_assertion> ?p ?o ?g. }
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- NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_assertion type Assertion NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_head.
- NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_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." NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_provenance.
- NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_assertion evidence source_evidence_literature NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_provenance.
- NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_assertion SIO_000772 16679074 NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_provenance.
- NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_assertion wasDerivedFrom befree-2016 NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_provenance.
- NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_assertion wasGeneratedBy ECO_0000203 NP548456.RAGpfJjxvmVX7goQrjAyX8iwt2Xw3M23oNYdj3OLmam78130_provenance.