Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_assertion> ?p ?o ?g. }
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- NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_assertion type Assertion NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_head.
- NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_assertion description "[A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_provenance.
- NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_assertion evidence source_evidence_literature NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_provenance.
- NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_assertion SIO_000772 18785257 NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_provenance.
- NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_assertion wasDerivedFrom befree-20150227 NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_provenance.
- NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_assertion wasGeneratedBy ECO_0000203 NP811546.RAr57k4CW7Ll_NOAHzlvCQmK0M6LBNROrggwb8Jyk4Q-A130_provenance.