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- NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_assertion type Assertion NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_head.
- NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_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." NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_provenance.
- NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_assertion evidence source_evidence_literature NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_provenance.
- NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_assertion SIO_000772 12840783 NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_provenance.
- NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_assertion wasDerivedFrom befree-20140225 NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_provenance.
- NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_assertion wasGeneratedBy ECO_0000203 NP912465.RA5jXiCCDj1BXrJCHX0L_fK2aW0UaoKHRa56ZQGHwubws130_provenance.