Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.
- NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_assertion description "[Based on these findings, we propose that the t(12;22) results in haploinsufficiency of the FBLN1-D variant, which could lead to the observed limb malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.
- NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_assertion evidence source_evidence_literature NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.
- NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_assertion SIO_000772 11836357 NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.
- NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_assertion wasDerivedFrom befree-20150227 NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.
- NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_assertion wasGeneratedBy ECO_0000203 NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP289381.RAOyfg3IZodmUxN9NZA2llp0e4XedqqmYzzJ3BMDMmRkU130_provenance.