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- NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_assertion type Assertion NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_head.
- NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_assertion description "[Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with Rothmund-Thomson syndrome (RTS, OMIM 268400), a condition characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, cataracts and an increased risk of malignancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_provenance.
- NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_assertion evidence source_evidence_literature NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_provenance.
- NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_assertion SIO_000772 16630167 NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_provenance.
- NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_assertion wasDerivedFrom befree-20140225 NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_provenance.
- NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_assertion wasGeneratedBy ECO_0000203 NP789613.RAiP695aUpJzP5hxNxbnl8r1-fSgu26LbCkXcXHkkszUU130_provenance.