Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.
- NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_assertion description "[We report on a small de novo interstitial deletion of the short arm of chromosome 20, 46,XY,del(20)(p12.3p13), in a young boy with hypotonia, moderate development delay, mild facial dysmorphism and severe growth failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.
- NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_assertion evidence source_evidence_literature NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.
- NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_assertion SIO_000772 11856871 NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.
- NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_assertion wasDerivedFrom befree-20140225 NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.
- NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_assertion wasGeneratedBy ECO_0000203 NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.
- befree-20140225 importedOn "2014-02-25" NP154424.RAKrJwS2BEZ8rK8_qDiuaB4iYbv0xYl0J0mo-yjJ4Xx3Q130_provenance.