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- source_evidence_literature type ECO_0000212 NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.
- NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_assertion description "[Accurate diagnosis through molecular testing is available for the vast majority of patients with inherited neuropathies, resulting from mutations in three genes (PMP22, MPZ, and GJB1); the most common types of muscular dystrophies (Duchenne and Becker, facioscapulohumeral, and myotonic dystrophies); the inherited motor neuron disorders (spinal muscular atrophy, Kennedy's disease, and SOD1 related amyotrophic lateral sclerosis); and many other neuromuscular disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.
- NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_assertion evidence source_evidence_literature NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.
- NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_assertion SIO_000772 15704143 NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.
- NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_assertion wasDerivedFrom befree-2016 NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.
- NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_assertion wasGeneratedBy ECO_0000203 NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.
- befree-2016 importedOn "2016-02-19" NP480351.RAX_Zrm7dLC6BRQuWH74fTNcgoA1OAlBXnBNtAUG6Gl7E130_provenance.