Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.
- NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_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." NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.
- NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_assertion evidence source_evidence_literature NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.
- NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_assertion SIO_000772 12840783 NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.
- NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_assertion wasDerivedFrom befree-2016 NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.
- NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_assertion wasGeneratedBy ECO_0000203 NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.
- befree-2016 importedOn "2016-02-19" NP400417.RAutATB_y2fXZZcw00mTdNU8JXdhNsz_Bu_vAMaxbVWFM130_provenance.