Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP11414.RAYHVQZeo5HmIsb4AjXAr8k9RlNqF8u6PnZVMKrYBDTKU#assertion> ?p ?o ?g. }
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- assertion description "[A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 24069336 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.