Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion> ?p ?o ?g. }
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- NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion type Assertion NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_head.
- NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion description "[These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance.
- NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion evidence source_evidence_literature NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance.
- NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion SIO_000772 12542510 NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance.
- NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion wasDerivedFrom befree-20140225 NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance.
- NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion wasGeneratedBy ECO_0000203 NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance.