Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_assertion> ?p ?o ?g. }
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- NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_assertion type Assertion NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_head.
- NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_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." NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_provenance.
- NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_assertion evidence source_evidence_literature NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_provenance.
- NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_assertion SIO_000772 16098078 NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_provenance.
- NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_assertion wasDerivedFrom befree-20140225 NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_provenance.
- NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_assertion wasGeneratedBy ECO_0000203 NP642149.RAJfXrBT2iDgivI52b_hAKutFWfSDwvdhwHrT7AUG39dI130_provenance.