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- source_evidence_literature type ECO_0000212 NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.
- NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_assertion description "[In addition, we identified a non-synonymous variant in the NKX2-5 gene (P257A) associated with one congenital heart disease patient with VSD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.
- NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_assertion evidence source_evidence_literature NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.
- NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_assertion SIO_000772 20659440 NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.
- NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_assertion wasDerivedFrom befree-20150227 NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.
- NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_assertion wasGeneratedBy ECO_0000203 NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.
- befree-20150227 importedOn "2015-02-27" NP334034.RAmoywYwzobT18r3tisrn5V_g0DvUk55aq9d7LyMgfl-I130_provenance.