Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_assertion> ?p ?o ?g. }
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- NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_assertion type Assertion NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_head.
- NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_assertion wasGeneratedBy ECO_0000203 NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_provenance.
- NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_assertion wasDerivedFrom befree-20140225 NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_provenance.
- NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_assertion SIO_000772 21545237 NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_provenance.
- NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_assertion evidence source_evidence_literature NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_provenance.
- NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_assertion description "[We report a novel G61R SOD1 mutation in a patient with a distinct phenotype including prominent lower motor neuron dysfunction, proximal weakness and atrophy with asymmetrical onset in the thigh and buttock and relentless clinical course.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP440724.RAfCYYX_Po-PmvKxooYv-HUyiMZSfZ3D46LQa5qlQkcoE130_provenance.