Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.
- NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_assertion description "[Germline mutations in PTPN11--the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2--represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.
- NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_assertion evidence source_evidence_literature NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.
- NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_assertion SIO_000772 15248152 NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.
- NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_assertion wasDerivedFrom befree-2016 NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.
- NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_assertion wasGeneratedBy ECO_0000203 NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.
- befree-2016 importedOn "2016-02-19" NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_provenance.