Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_assertion> ?p ?o ?g. }
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- NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_assertion type Assertion NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_head.
- NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_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." NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_provenance.
- NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_assertion evidence source_evidence_literature NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_provenance.
- NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_assertion SIO_000772 16098078 NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_provenance.
- NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_assertion wasDerivedFrom befree-20140225 NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_provenance.
- NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_assertion wasGeneratedBy ECO_0000203 NP852273.RA0iU2B7OmejDn4DvGhRFTaI5bzghv9aBXUZoBCrZbFEA130_provenance.