Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_assertion> ?p ?o ?g. }
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- NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_assertion type Assertion NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_head.
- NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_assertion description "[Two patients had pathogenic SMAD3 nonsense mutations consistent with type-III Loeys-Dietz syndrome and one patient had a pathogenic FBN1 mutation with subsequent confirmation of Marfan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_provenance.
- NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_assertion evidence source_evidence_literature NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_provenance.
- NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_assertion SIO_000772 26333736 NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_provenance.
- NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_assertion wasDerivedFrom befree-2016 NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_provenance.
- NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_assertion wasGeneratedBy ECO_0000203 NP1293583.RAxOr4qUSgkf5WcIYLReXkZUR5q6et0UTjwyuI6Bk88FI130_provenance.