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- source_evidence_literature type ECO_0000212 NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.
- NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_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." NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.
- NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_assertion evidence source_evidence_literature NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.
- NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_assertion SIO_000772 22607287 NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.
- NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_assertion wasDerivedFrom befree-2016 NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.
- NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_assertion wasGeneratedBy ECO_0000203 NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.
- befree-2016 importedOn "2016-02-19" NP983390.RADQwOT061wjbovec751qCAoJQSmV4pbiMRj4F6OlBdFk130_provenance.