Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_assertion> ?p ?o ?g. }
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- NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_assertion type Assertion NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_head.
- NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_assertion description "[Two siblings with deletion of the entire GJB1 gene had mild to moderate lower extremity muscle weakness and sensory disturbance without CNS involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_provenance.
- NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_assertion evidence source_evidence_literature NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_provenance.
- NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_assertion SIO_000772 12542510 NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_provenance.
- NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_assertion wasDerivedFrom befree-2016 NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_provenance.
- NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_assertion wasGeneratedBy ECO_0000203 NP381105.RAY9vEBkGxFLQUtQzfDN_r45sQfYhtNKbqnCSuO2WEGS0130_provenance.