Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_assertion> ?p ?o ?g. }
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- NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_assertion type Assertion NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_head.
- NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_assertion wasGeneratedBy ECO_0000203 NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_provenance.
- NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_assertion wasDerivedFrom befree-2016 NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_provenance.
- NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_assertion SIO_000772 15563506 NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_provenance.
- NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_assertion evidence source_evidence_literature NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_provenance.
- NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_assertion description "[This model, where dominant mutations cause mild Bethlem myopathy and recessive mutations cause severe UCMD was recently challenged when a patient with UCMD was shown to have a heterozygous in-frame deletion in COL6A1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP470134.RAvY4G-eWcLSguSecIb2-oBlwl8UsX6rl1UGKEoT9lhuU130_provenance.