Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_assertion type Assertion NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_head.
- NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_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." NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_provenance.
- NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_assertion evidence source_evidence_literature NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_provenance.
- NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_assertion SIO_000772 19557653 NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_provenance.
- NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_assertion wasDerivedFrom befree-20140225 NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_provenance.
- NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_assertion wasGeneratedBy ECO_0000203 NP483360.RA0hMNJ2_Qe3oNaZVASNSqR4hXKg7t2RfVsvRjTsanoF4130_provenance.