Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_assertion type Assertion NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_head.
- NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_assertion wasGeneratedBy ECO_0000203 NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_provenance.
- NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_assertion wasDerivedFrom befree-20150227 NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_provenance.
- NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_assertion SIO_000772 22899009 NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_provenance.
- NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_assertion evidence source_evidence_literature NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_provenance.
- NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_assertion description "[Interestingly, mutations in C16orf57 were also observed among patients diagnosed with Rothmund-Thomson syndrome (RTS) and dyskeratosis congenita (DC), which are caused by mutations in genes involved in DNA repair and telomere maintenance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP944794.RATBqHDhFsCKtGMwX_6xBYAoI5nQYKCwOKGgjb4phCaf8130_provenance.