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- source_evidence_literature type ECO_0000212 NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.
- NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_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." NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.
- NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_assertion evidence source_evidence_literature NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.
- NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_assertion SIO_000772 21936905 NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.
- NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_assertion wasDerivedFrom befree-20140225 NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.
- NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_assertion wasGeneratedBy ECO_0000203 NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.
- befree-20140225 importedOn "2014-02-25" NP932467.RA_Cw_ASwdT_RjYxRfVvdyBc9Txj7-C33nDp1_g5fKy-Y130_provenance.