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- source_evidence_literature type ECO_0000212 NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.
- NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_assertion description "[We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.
- NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_assertion evidence source_evidence_literature NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.
- NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_assertion SIO_000772 14585638 NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.
- NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_assertion wasDerivedFrom befree-2016 NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.
- NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_assertion wasGeneratedBy ECO_0000203 NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.
- befree-2016 importedOn "2016-02-19" NP418711.RADFsxwbJGqRp9aXBkST8_2DZoxhafPly6gD8sp4Nhgdg130_provenance.