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- source_evidence_literature type ECO_0000212 NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.
- NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_assertion description "[The occurrence of three different hemizygous missense mutations in three unrelated families affected by Ohdo syndrome MKB type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.
- NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_assertion evidence source_evidence_literature NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.
- NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_assertion SIO_000772 23395478 NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.
- NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_assertion wasDerivedFrom befree-2016 NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.
- NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_assertion wasGeneratedBy ECO_0000203 NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_provenance.