Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion> ?p ?o ?g. }
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- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion type Assertion NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_head.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion description "[Genetic testing was performed in all patients and/or in first- or second-degree relatives to document mutation in MPZ gene indicating diagnosis of Charcot-Marie-Tooth disease type 1B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion evidence source_evidence_literature NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion SIO_000772 26310628 NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion wasDerivedFrom befree-2016 NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.
- NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_assertion wasGeneratedBy ECO_0000203 NP1293246.RAE4NYJpoUd_xacL2P53Ya8FD5k2xaA9OM5c8hsxkNLlo130_provenance.