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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16638657 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- LHGDN importedOn "2009-03-31" provenance.