Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_assertion> ?p ?o ?g. }
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- NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_assertion type Assertion NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_head.
- NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_assertion description "[Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of 44 individuals with NBS; these mutations were confirmed to be de novo when parental samples were available.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_provenance.
- NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_assertion evidence source_evidence_curated NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_provenance.
- NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_assertion SIO_000772 22366787 NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_provenance.
- NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_assertion wasDerivedFrom ctd_human-20130708 NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_provenance.
- NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_assertion wasGeneratedBy ECO_0000218 NP30236.RAz8mykuBvLAk-WfXjfy7wvI9Zyk7IgY58FtoEvGkcO0k130_provenance.