Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_assertion> ?p ?o ?g. }
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- NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_assertion type Assertion NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_head.
- NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_assertion description "[This novel mutation adds to the few previously reported pathogenic MFN2 splice site mutations causing CMT2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_provenance.
- NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_assertion evidence source_evidence_literature NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_provenance.
- NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_assertion SIO_000772 24530046 NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_provenance.
- NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_assertion wasDerivedFrom befree-20150227 NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_provenance.
- NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_assertion wasGeneratedBy ECO_0000203 NP832458.RAaNK9AsdavhMkRfZJ47KREYMSBHhjeeL4e0g43l31QAo130_provenance.