Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.
- NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_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." NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.
- NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_assertion evidence source_evidence_literature NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.
- NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_assertion SIO_000772 21936905 NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.
- NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_assertion wasDerivedFrom befree-20150227 NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.
- NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_assertion wasGeneratedBy ECO_0000203 NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP932403.RAZMffJz7qovwQ4kezj5uPHbx8JR4_iCgMDLr5x3_g6i4130_provenance.