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- assertion description "[genes causing hereditary hemorrhagic telangiectasia (HHT), i.e.endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1), have a relatively high mutation rate.all the four ENG mutations and one of the ACVRL1 mutations were new]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18607909 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.