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- source_evidence_literature type ECO_0000212 NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.
- NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_assertion description "[Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.
- NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_assertion evidence source_evidence_literature NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.
- NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_assertion SIO_000772 12840783 NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.
- NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_assertion wasDerivedFrom befree-2016 NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.
- NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_assertion wasGeneratedBy ECO_0000203 NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.
- befree-2016 importedOn "2016-02-19" NP400416.RASCuFmNMJuk-uY_oK8Nl13WwbrhB96DiS8KghblbGQuY130_provenance.