Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_assertion> ?p ?o ?g. }
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- NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_assertion type Assertion NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_head.
- NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_assertion description "[The mutation extends the known N-terminal boundary within the CC1 domain that produces an ectodermal dysplasia phenotype, and defines an infectious susceptibility previously unappreciated in ectodermal dysplasia with immunodeficiency (methicillin-resistant S. aureus subdural empyema), broadening the clinical spectrum associated with the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_provenance.
- NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_assertion evidence source_evidence_literature NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_provenance.
- NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_assertion SIO_000772 20652730 NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_provenance.
- NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_assertion wasDerivedFrom befree-20140225 NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_provenance.
- NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_assertion wasGeneratedBy ECO_0000203 NP674572.RACiqtnaP2i7TYr5cVueYgirso0_mh7Z-uyfRSadPiokw130_provenance.