Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion> ?p ?o ?g. }
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- NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion type Assertion NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_head.
- NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance.
- NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion evidence source_evidence_literature NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance.
- NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion SIO_000772 10951251 NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance.
- NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion wasDerivedFrom befree-20150227 NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance.
- NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion wasGeneratedBy ECO_0000203 NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance.