Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.
- NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_assertion description "[Using whole exome sequencing, we identify a recessive missense mutation in SHROOM3 associated with heterotaxy syndrome and identify rare variants in subsequent screening of a heterotaxy cohort, suggesting SHROOM3 as a novel target for the control of left-right patterning.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.
- NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_assertion evidence source_evidence_literature NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.
- NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_assertion SIO_000772 21936905 NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.
- NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_assertion wasDerivedFrom befree-2016 NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.
- NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_assertion wasGeneratedBy ECO_0000203 NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.
- befree-2016 importedOn "2016-02-19" NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_provenance.