Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_assertion type Assertion NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_head.
- NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_assertion description "[Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_provenance.
- NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_assertion evidence source_evidence_literature NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_provenance.
- NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_assertion SIO_000772 15673802 NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_provenance.
- NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_assertion wasDerivedFrom befree-20150227 NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_provenance.
- NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_assertion wasGeneratedBy ECO_0000203 NP247428.RAxpN749H4UTknsvLcNeVdnle_QdAYJLa2sk-0OQCuUIc130_provenance.