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- source_evidence_literature type ECO_0000212 NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.
- NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_assertion description "[Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.
- NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_assertion evidence source_evidence_literature NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.
- NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_assertion SIO_000772 22607287 NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.
- NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_assertion wasDerivedFrom befree-20150227 NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.
- NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_assertion wasGeneratedBy ECO_0000203 NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP799741.RAmzegX9j2hH_xOzAodnEuR3viL9E3mnkartfMJ-HtBvk130_provenance.