Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion description "[The G219fs mutation was found in multiple families affected with congenital cataracts along with anterior segment malformations/S13N mutant showed only minor alteration and may represent a rare polymorphism in the PITX3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion evidence source_evidence_literature NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion SIO_000772 17888164 NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion wasDerivedFrom lhgdn-20090331 NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion wasGeneratedBy ECO_0000203 NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.