Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_assertion> ?p ?o ?g. }
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- NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_assertion type Assertion NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_head.
- NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_assertion description "[DNA analysis of a father and son with dominant fast channel congenital myasthenic syndrome revealed an AChR alpha-subunit F256L missense mutation affecting channel gating ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_provenance.
- NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_assertion evidence source_evidence_literature NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_provenance.
- NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_assertion SIO_000772 15079006 NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_provenance.
- NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_assertion wasDerivedFrom lhgdn-20090331 NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_provenance.
- NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_assertion wasGeneratedBy ECO_0000203 NP204528.RASl4cWPA_GGofZiWYtA0oAcYA6sv5DjfgkI9EMvyfuPM130_provenance.