Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_assertion> ?p ?o ?g. }
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- NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_assertion type Assertion NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_head.
- NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_assertion description "[We suggest that L1CAM mutation testing should be considered in male patients with a positive family history compatible with X-linked inheritance and either the combination of agenesis of the CC and HSCR or the combination of agenesis of the CC and limb abnormalities, including abnormalities other than adducted thumbs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_provenance.
- NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_assertion evidence source_evidence_literature NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_provenance.
- NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_assertion SIO_000772 16650080 NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_provenance.
- NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_assertion wasDerivedFrom befree-20140225 NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_provenance.
- NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_assertion wasGeneratedBy ECO_0000203 NP789906.RAB5qOeXaY0jqMlJaKSpZx2qaze7up9mtbuSpuHf3p9e8130_provenance.