Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.
- NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_assertion description "[In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.
- NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_assertion evidence source_evidence_literature NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.
- NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_assertion SIO_000772 22020182 NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.
- NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_assertion wasDerivedFrom befree-2016 NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.
- NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_assertion wasGeneratedBy ECO_0000203 NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.
- befree-2016 importedOn "2016-02-19" NP932937.RAPtsAv1yTL4ncFD4A8j2Tb7rzFLbwDUuaygUQGrR87cU130_provenance.