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- source_evidence_literature type ECO_0000212 NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.
- NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_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." NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.
- NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_assertion evidence source_evidence_literature NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.
- NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_assertion SIO_000772 16638657 NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.
- NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_assertion wasDerivedFrom lhgdn-20090331 NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.
- NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_assertion wasGeneratedBy ECO_0000203 NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP216829.RAwFUyk42nkBgBzAdBhyi01KL0UTJtKgGtlWuc2bfhd8c130_provenance.