Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_assertion> ?p ?o ?g. }
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- NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_assertion type Assertion NP1051575.RANUtNZb6FXdoVu91qOAZqEJX1LWReNLDj-z-nG64eUOI130_head.
- 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.