Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_assertion> ?p ?o ?g. }
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- NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_assertion type Assertion NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_head.
- NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_assertion description "[New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_provenance.
- NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_assertion evidence source_evidence_literature NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_provenance.
- NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_assertion SIO_000772 12840783 NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_provenance.
- NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_assertion wasDerivedFrom gad-20130706 NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_provenance.
- NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_assertion wasGeneratedBy ECO_0000203 NP46655.RARv2SvWBO33dt6Y0uAAZPwj3prrfPLPjKSNtKe-TMzSU130_provenance.