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- source_evidence_literature type ECO_0000212 NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.
- NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion description "[Four new missense and five known mutations in K6a, one new deletion and three previously identified missense mutations in K16, plus one known mutation in K17 are reported in pachyonychia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.
- NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion evidence source_evidence_literature NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.
- NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion SIO_000772 17719747 NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.
- NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion wasDerivedFrom lhgdn-20090331 NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.
- NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_assertion wasGeneratedBy ECO_0000203 NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP150376.RAezgw6LedMWyXr-dJ4-nzpdOOetk1c_vdsghyxPxdGu8130_provenance.