Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.
- NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_assertion description "[In two families affected by POF accompanied by hearing loss (together, these symptoms compose Perrault syndrome), exome sequencing revealed mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase: homozygous c.1565C>A (p.Thr522Asn) in a consanguineous Palestinian family and compound heterozygous c.1077delT and c.1886C>T (p.Thr629Met) in a nonconsanguineous Slovenian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.
- NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_assertion evidence source_evidence_literature NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.
- NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_assertion SIO_000772 23541342 NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.
- NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_assertion wasDerivedFrom befree-20140225 NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.
- NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_assertion wasGeneratedBy ECO_0000203 NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP170404.RAy0qlUxtgrQYz9YhZt_pGJaT7FhlhRymrwDeYT_ZAHlQ130_provenance.