Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_assertion> ?p ?o ?g. }
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- NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_assertion type Assertion NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_head.
- NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_assertion wasGeneratedBy ECO_0000203 NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_provenance.
- NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_assertion wasDerivedFrom befree-2016 NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_provenance.
- NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_assertion SIO_000772 21533187 NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_provenance.
- NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_assertion evidence source_evidence_literature NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_provenance.
- NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_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." NP890806.RAkFiL_2DiFZWXm3_UFuz481MTiPh-n9_LrUiqp_sML8A130_provenance.