Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.
- befree-2016 importedOn "2016-02-19" NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.
- NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_assertion wasGeneratedBy ECO_0000203 NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.
- NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_assertion wasDerivedFrom befree-2016 NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.
- NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_assertion SIO_000772 17054105 NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.
- NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_assertion evidence source_evidence_literature NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.
- NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_assertion description "[To further investigate the phenotypic spectrum associated with germline HRAS mutations and characterize their molecular diversity, subjects with a diagnosis of CS (N = 9), Noonan syndrome (NS; N = 36), cardiofaciocutaneous syndrome (CFCS; N = 4), or with a phenotype suggestive of these conditions but without a definitive diagnosis (N = 12) were screened for the entire coding sequence of the gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP575419.RAT4OSnytmrZncLq-hfdTHzB-0b_7xifMbH4hgDyNwhkk130_provenance.