Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion> ?p ?o ?g. }
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- NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion type Assertion NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_head.
- NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion wasGeneratedBy ECO_0000218 NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_provenance.
- NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion wasDerivedFrom ctd_human-20130708 NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_provenance.
- NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion SIO_000772 21533187 NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_provenance.
- NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion evidence source_evidence_curated NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_provenance.
- NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion description "[We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a `second hit,` that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_provenance.