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- assertion description "[5 new mutations were found in hereditary hemorrhagic telangiectasia: c.149G > A, c.246delC, c.1273T > G, c.1274 _ 1276delTCT, and c.1377+1G > A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15712270 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.