Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.
- NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_assertion description "[We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.
- NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_assertion evidence source_evidence_literature NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.
- NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_assertion SIO_000772 26175287 NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.
- NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_assertion wasDerivedFrom befree-2016 NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.
- NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_assertion wasGeneratedBy ECO_0000203 NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.
- befree-2016 importedOn "2016-02-19" NP1290131.RANV3e7te99SWYHVi1RZScdLfdJVRnZEn3av4GshfGrBw130_provenance.