Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_assertion type Assertion NP925408.RAHgZlpAcWPmFl96KEPnDjSkT4eskUC0xlwBGDJYUDzX0130_head.
- 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.