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- source_evidence_literature type ECO_0000212 NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.
- NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_assertion description "[Using whole-exome sequencing, we identified biallelic mutations in RTEL1, encoding a helicase essential for telomere maintenance and regulation of homologous recombination, in an individual with familial HHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.
- NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_assertion evidence source_evidence_literature NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.
- NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_assertion SIO_000772 23453664 NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.
- NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_assertion wasDerivedFrom befree-20140225 NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.
- NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_assertion wasGeneratedBy ECO_0000203 NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP458571.RAAhLhvwbn5dBZKryb-AvuX4FtNhyTZdiMrUo4wDiq1ZI130_provenance.