Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_assertion> ?p ?o ?g. }
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- NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_assertion type Assertion NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_head.
- NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_assertion description "[The c.319C > T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition/should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_provenance.
- NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_assertion evidence source_evidence_literature NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_provenance.
- NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_assertion SIO_000772 18054510 NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_provenance.
- NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_assertion wasDerivedFrom lhgdn-20090331 NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_provenance.
- NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_assertion wasGeneratedBy ECO_0000203 NP135015.RAUnATeRbbOZMp8kGmATwDhVodGUGEh4XqnWl5eAnNNro130_provenance.