Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion> ?p ?o ?g. }
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- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion type Assertion NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_head.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion description "[A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion evidence source_evidence_curated NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion SIO_000772 10502832 NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion wasDerivedFrom uniprot-2016 NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.
- NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_assertion wasGeneratedBy ECO_0000218 NP403.RATw5MQFp3L3AnuwvEgON01a20IrnYbF_ETLq0wpxnGIo130_provenance.