Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion description "[To our knowledge, we report the first molecular confirmation of postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion evidence source_evidence_literature NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion SIO_000772 21931045 NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion wasDerivedFrom befree-20150227 NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_assertion wasGeneratedBy ECO_0000203 NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP851519.RAf6vagjquNIbJFYxmVBSkrloV2otSBYpC2oIuZH2IhZg130_provenance.