Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_assertion> ?p ?o ?g. }
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- NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_assertion type Assertion NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_head.
- NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_assertion description "[Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with variable phenotypic expression, due to a mutation in one of the two genes, TSC1 and TSC2, and a subsequent hyperactivation of the downstream mTOR pathway, resulting in increased cell growth and proliferation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_provenance.
- NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_assertion evidence source_evidence_literature NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_provenance.
- NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_assertion SIO_000772 19028034 NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_provenance.
- NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_assertion wasDerivedFrom befree-2016 NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_provenance.
- NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_assertion wasGeneratedBy ECO_0000203 NP705244.RAOuwhIA3BvTO6ws9G9NjuS_9OqkXhjHPq9LS2d3kpiBc130_provenance.