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- source_evidence_literature type ECO_0000212 NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.
- NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_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." NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.
- NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_assertion evidence source_evidence_literature NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.
- NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_assertion SIO_000772 12732643 NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.
- NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_assertion wasDerivedFrom befree-2016 NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.
- NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_assertion wasGeneratedBy ECO_0000203 NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.
- befree-2016 importedOn "2016-02-19" NP393358.RAQFLNeNTuRmj6kGiM843X7fDXNd00-9XWL_xkQ6dRYAY130_provenance.