Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_assertion> ?p ?o ?g. }
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- NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_assertion type Assertion NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_head.
- NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_assertion description "[A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_provenance.
- NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_assertion evidence source_evidence_literature NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_provenance.
- NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_assertion SIO_000772 7608290 NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_provenance.
- NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_assertion wasDerivedFrom befree-20140225 NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_provenance.
- NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_assertion wasGeneratedBy ECO_0000203 NP274168.RAcCz-qa5Pc2RZ3O7e8G5t4Ol7tTr8QY2LDqsBTuAFeuI130_provenance.