Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.
- NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_assertion description "[An in-frame deletion of 17 amino acids in the second fibronectin type III repeat of integrin beta 4 (delta 17-beta 4) has been associated with junctional epidermolysis bullosa with pyloric atresia (PA-JEB), a genetic disease characterized by altered HD and disadhesion of the epidermis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.
- NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_assertion evidence source_evidence_literature NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.
- NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_assertion SIO_000772 9389789 NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.
- NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_assertion wasDerivedFrom befree-20140225 NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.
- NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_assertion wasGeneratedBy ECO_0000203 NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP324572.RAHKbud6YlLQI90Wm4VA18ex5D7MY6VzDelIMfyvzP2xg130_provenance.