Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_assertion> ?p ?o ?g. }
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- NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_assertion type Assertion NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_head.
- NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_assertion description "[A patient with nevoid basal-cell carcinoma syndrome and West syndrome/patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_provenance.
- NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_assertion evidence source_evidence_literature NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_provenance.
- NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_assertion SIO_000772 17950424 NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_provenance.
- NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_assertion wasDerivedFrom lhgdn-20090331 NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_provenance.
- NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_assertion wasGeneratedBy ECO_0000203 NP147700.RA_iekXLNH7glrTd_YhY3VRcUw50RSejpMShXtPJYHxQE130_provenance.