Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.
- NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_assertion wasGeneratedBy ECO_0000218 NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.
- NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_assertion wasDerivedFrom ctd_human-20130708 NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.
- NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_assertion SIO_000772 21533187 NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.
- NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_assertion evidence source_evidence_curated NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.
- NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_assertion description "[We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a `second hit,` that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP27908.RA6q9kgN4EbayNynDBgWjEzQpdXu-3thwwJnZPzuihehQ130_provenance.