Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.
- NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_assertion description "[The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few caf�-au-lait spots as the only sign of neurofibromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.
- NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_assertion evidence source_evidence_literature NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.
- NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_assertion SIO_000772 19449407 NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.
- NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_assertion wasDerivedFrom befree-2016 NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.
- NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_assertion wasGeneratedBy ECO_0000203 NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.
- befree-2016 importedOn "2016-02-19" NP739652.RAU-ZSY21QH6njny4qaWq8F-KzcScobTrqV4gnpu4Dgb8130_provenance.