Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion> ?p ?o ?g. }
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- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion type Assertion NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_head.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion description "[Recently, RECQL4 was identified as the gene responsible for some cases of Rothmund-Thomson syndrome (RTS), a rare autosomal recessive genetic disorder that shows chromosomal instability, premature aging, and a high risk of mesenchymal tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion evidence source_evidence_literature NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion SIO_000772 10552928 NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion wasDerivedFrom befree-20140225 NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.
- NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_assertion wasGeneratedBy ECO_0000203 NP893857.RAvhvx3XIu14-iaCQEOan2ZsCEEFOEk8VJQub2pcwPDZA130_provenance.