Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_assertion type Assertion NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_head.
- NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_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." NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_provenance.
- NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_assertion evidence source_evidence_literature NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_provenance.
- NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_assertion SIO_000772 21936905 NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_provenance.
- NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_assertion wasDerivedFrom befree-20140225 NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_provenance.
- NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_assertion wasGeneratedBy ECO_0000203 NP273712.RAFNAt8NCRPbxrvABRRMTffJEGJVdOQwzJGHRSh9_QGeI130_provenance.