Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_assertion type Assertion NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_head.
- NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_assertion wasGeneratedBy ECO_0000203 NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_provenance.
- NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_assertion wasDerivedFrom befree-2016 NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_provenance.
- NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_assertion SIO_000772 21944047 NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_provenance.
- NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_assertion evidence source_evidence_literature NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_provenance.
- NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_assertion description "[Using whole-genome homozygosity mapping, candidate-gene analysis and deep sequencing, we have identified loss-of-function mutations in the gene for protease inhibitor cystatin A (CSTA) as the underlying genetic cause of exfoliative ichthyosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP926077.RACR1TRoMlVdPkjP1888c52xgUgTKDYxv5zeb9wwbIeRw130_provenance.