Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_assertion> ?p ?o ?g. }
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- NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_assertion type Assertion NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_head.
- NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_assertion description "[The term CFTR-related metabolic syndrome (CRMS) is proposed to describe infants identified by hypertrypsinogenemia on NBS who have sweat chloride values <60 mmol/L and up to 2 CFTR mutations, at least 1 of which is not clearly categorized as a `CF-causing mutation,` thus they do not meet CF Foundation guidelines for the diagnosis of CF.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_provenance.
- NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_assertion evidence source_evidence_literature NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_provenance.
- NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_assertion SIO_000772 19914443 NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_provenance.
- NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_assertion wasDerivedFrom befree-20140225 NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_provenance.
- NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_assertion wasGeneratedBy ECO_0000203 NP337121.RAKQtjB0yNh437Co2lFzlD2WkWhKBFwOQMQqMsz_aDIi4130_provenance.