Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_assertion> ?p ?o ?g. }
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- NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_assertion type Assertion NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_head.
- NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_assertion description "[Seven of these had genetically proven CMT disease type 1A (CMT1A) due to chromosome 17p11.2-12 duplication, and one had X-linked disease (CMTX) due to a mutation in the GJB1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_provenance.
- NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_assertion evidence source_evidence_literature NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_provenance.
- NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_assertion SIO_000772 14607795 NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_provenance.
- NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_assertion wasDerivedFrom befree-2016 NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_provenance.
- NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_assertion wasGeneratedBy ECO_0000203 NP419950.RAjS1O0IZkGBtenWuN80DZcziOO2sLUopQMoEGw-QvDJ8130_provenance.