Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_assertion> ?p ?o ?g. }
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- NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_assertion type Assertion NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_head.
- NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_assertion description "[The genetic defect was shown to be a novel mutation in the NBS1 gene, so the diagnosis was revised to that of NBS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_provenance.
- NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_assertion evidence source_evidence_literature NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_provenance.
- NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_assertion SIO_000772 15593232 NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_provenance.
- NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_assertion wasDerivedFrom befree-2016 NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_provenance.
- NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_assertion wasGeneratedBy ECO_0000203 NP472506.RAQt92hS2dG32DujVZlB_cfAtJPks5vdp_BUzf7VzGmHo130_provenance.