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- source_evidence_literature type ECO_0000212 NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.
- NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_assertion description "[report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.
- NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_assertion evidence source_evidence_literature NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.
- NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_assertion SIO_000772 17993581 NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.
- NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_assertion wasDerivedFrom lhgdn-20090331 NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.
- NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_assertion wasGeneratedBy ECO_0000203 NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP231106.RAGY2bDGD_lG2bj-K5e7Ztj09y5hGwCTTHiEiI9cq3pc4130_provenance.