Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_assertion> ?p ?o ?g. }
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- NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_assertion type Assertion NP451627.RAQEiH7iBRrx0dhlkwVapx-krnccpuUcsUUZSNlgAKLGM130_head.
- 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.