Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_assertion> ?p ?o ?g. }
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- NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_assertion type Assertion NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_head.
- NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_assertion description "[This is a case series of a family positive for a previously undescribed mutation in the myofilament gene MYH7, causing hypertrophic cardiomyopathy (HCM), a potentially lethal cardiac disease with strong hereditability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_provenance.
- NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_assertion evidence source_evidence_literature NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_provenance.
- NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_assertion SIO_000772 25182012 NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_provenance.
- NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_assertion wasDerivedFrom befree-2016 NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_provenance.
- NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_assertion wasGeneratedBy ECO_0000203 NP1216206.RAviCbo389A02PFRvQ3FJMKp0lDrNtVEqT20wcnTG5aGY130_provenance.