Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_assertion> ?p ?o ?g. }
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- NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_assertion type Assertion NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_head.
- NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_assertion description "[A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_provenance.
- NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_assertion evidence source_evidence_literature NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_provenance.
- NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_assertion SIO_000772 17372104 NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_provenance.
- NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_assertion wasDerivedFrom befree-20140225 NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_provenance.
- NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_assertion wasGeneratedBy ECO_0000203 NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_provenance.