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- source_evidence_literature type ECO_0000212 NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.
- NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_assertion description "[Understanding of this group of disorders has advanced in recent years through the identification of causative mutations in various genes, most of which encode proteins of the sarcomeric Z-disc, including desmin, alphaB-crystallin, myotilin, ZASP and filamin C. This review focuses on the MFMs arising from defects in these proteins, summarising genetic and clinical features of the disorders and then discussing emerging understanding of the molecular pathogenic mechanisms leading to muscle fibre degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.
- NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_assertion evidence source_evidence_literature NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.
- NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_assertion SIO_000772 18764962 NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.
- NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_assertion wasDerivedFrom befree-2016 NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.
- NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_assertion wasGeneratedBy ECO_0000203 NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.
- befree-2016 importedOn "2016-02-19" NP691030.RABScKEsD5jbL3I8z3r0rpK6JCm2BfJCHCy3lSbiZawaw130_provenance.