Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_assertion type Assertion NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_head.
- NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_assertion description "[Mutation of the non-muscle myosin heavy chain type II-A results in MYH9-related hereditary macrothrombocytopenia (HMTC), including four autosomal dominant platelet disorders: May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FS) and Epstein (EPS) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_provenance.
- NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_assertion evidence source_evidence_literature NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_provenance.
- NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_assertion SIO_000772 16098078 NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_provenance.
- NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_assertion wasDerivedFrom befree-2016 NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_provenance.
- NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_assertion wasGeneratedBy ECO_0000203 NP508646.RA226KH0n0S67CowtFBnpeCajIZKcA4WSkUoaozyaryEA130_provenance.