Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.
- NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion description "[We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.
- NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion evidence source_evidence_literature NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.
- NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion SIO_000772 21044901 NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.
- NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion wasDerivedFrom befree-20140225 NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.
- NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_assertion wasGeneratedBy ECO_0000203 NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP449008.RAruBfZHC-DOfIYNWU4_h6evX02B9A2jP8FuM9ZoMFf2U130_provenance.