Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_assertion> ?p ?o ?g. }
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- NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_assertion type Assertion NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_head.
- NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_assertion description "[Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_provenance.
- NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_assertion evidence source_evidence_literature NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_provenance.
- NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_assertion SIO_000772 19557653 NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_provenance.
- NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_assertion wasDerivedFrom befree-2016 NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_provenance.
- NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_assertion wasGeneratedBy ECO_0000203 NP747680.RAEFc00aO_KY5AX3RlWUmijGAGlpWU3_8vWhOlfXJvhsQ130_provenance.