Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_assertion> ?p ?o ?g. }
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- NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_assertion type Assertion NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_head.
- NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_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." NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_provenance.
- NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_assertion evidence source_evidence_literature NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_provenance.
- NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_assertion SIO_000772 12732643 NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_provenance.
- NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_assertion wasDerivedFrom befree-20150227 NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_provenance.
- NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_assertion wasGeneratedBy ECO_0000203 NP977351.RABpRxosGye5iKN2WG_Yui_DVu3vcDD0CSbxbXj6p1O2g130_provenance.