Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_assertion> ?p ?o ?g. }
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- NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_assertion type Assertion NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_head.
- NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_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." NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_provenance.
- NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_assertion evidence source_evidence_literature NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_provenance.
- NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_assertion SIO_000772 18607909 NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_provenance.
- NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_assertion wasDerivedFrom lhgdn-20090331 NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_provenance.
- NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_assertion wasGeneratedBy ECO_0000203 NP239724.RAMS2yyfNfKsntffEdozWjPHTT27ThdiT6o0s0XVJjlis130_provenance.