Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_assertion> ?p ?o ?g. }
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- NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_assertion type Assertion NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_head.
- NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_assertion description "[A lethal form of nemaline myopathy, named `Amish Nemaline Myopathy` (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_provenance.
- NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_assertion evidence source_evidence_literature NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_provenance.
- NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_assertion SIO_000772 12732643 NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_provenance.
- NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_assertion wasDerivedFrom befree-20140225 NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_provenance.
- NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_assertion wasGeneratedBy ECO_0000203 NP345972.RAdn_llsXPFFBKc3-cuou3Ey2rAlkzHuWnvsiBimCDRyc130_provenance.