Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_assertion> ?p ?o ?g. }
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- NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_assertion type Assertion NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_head.
- NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_assertion description "[We found three novel mutations (S277X in the EXT1 gene, and G194X and 939+1G > A in the EXT2 gene) and a known mutation (Q172X in the EXT2 gene) in hereditary multiple exostoses ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_provenance.
- NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_assertion evidence source_evidence_literature NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_provenance.
- NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_assertion SIO_000772 16638657 NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_provenance.
- NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_assertion wasDerivedFrom lhgdn-20090331 NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_provenance.
- NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_assertion wasGeneratedBy ECO_0000203 NP153795.RAr63Fl6jsQu9JCMmJFgjAWr_fPAI3XaWPLAHwS4QXlRY130_provenance.