Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.
- NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_assertion description "[Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.
- NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_assertion evidence source_evidence_literature NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.
- NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_assertion SIO_000772 25510705 NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.
- NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_assertion wasDerivedFrom befree-2016 NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.
- NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_assertion wasGeneratedBy ECO_0000203 NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.
- befree-2016 importedOn "2016-02-19" NP1248258.RAgJ7M-RkrAw7ISdwlzJu5rd1AlKvFdiiZ6DT4LTBBhUs130_provenance.