Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion description "[We identified a GNAS mutation in a patient with a severe form of Albright hereditary osteodystrophy and pseudohypoparathyroidism type 1a with phocomelia and performed PGD on embryos derived by in vitro fertilization in order to deliver an unaffected infant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion evidence source_evidence_literature NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion SIO_000772 21550946 NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion wasDerivedFrom befree-2016 NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_assertion wasGeneratedBy ECO_0000203 NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.
- befree-2016 importedOn "2016-02-19" NP892383.RAcak8j0JvBgmJiAbpheI-B9TUfP-O5icrvADt9gKiEg8130_provenance.