Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_assertion> ?p ?o ?g. }
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- NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_assertion type Assertion NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_head.
- NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_assertion wasGeneratedBy ECO_0000203 NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_provenance.
- NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_assertion wasDerivedFrom befree-20150227 NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_provenance.
- NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_assertion SIO_000772 20507343 NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_provenance.
- NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_assertion evidence source_evidence_literature NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_provenance.
- NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_assertion description "[This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP947826.RABnR-DCJ9eoXLoE-CXukUsJfR5U4JDLaLktz6BdfhNfg130_provenance.