Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_assertion> ?p ?o ?g. }
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- NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_assertion type Assertion NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_head.
- NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_assertion description "[Hereditary haemorrhagic telangiectasia (HHT or Rendu-Osler-Weber syndrome) is an autosomal dominant disorder characterized by localized angiodysplasia due to mutations in endoglin, ALK-1 gene, and a still unidentified locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_provenance.
- NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_assertion evidence source_evidence_literature NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_provenance.
- NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_assertion SIO_000772 16429404 NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_provenance.
- NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_assertion wasDerivedFrom befree-2016 NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_provenance.
- NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_assertion wasGeneratedBy ECO_0000203 NP532310.RA5OAviw0sjzRtkaGCyeOUXC7ecF1KTxkIbtmahqdqyu0130_provenance.