Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_assertion> ?p ?o ?g. }
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- NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_assertion type Assertion NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_head.
- NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_assertion description "[Mutation p.Pro244Leu, not described so far, was identified in a patient with a mild form of SMA and more distal distribution of muscle weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_provenance.
- NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_assertion evidence source_evidence_literature NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_provenance.
- NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_assertion SIO_000772 24844453 NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_provenance.
- NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_assertion wasDerivedFrom befree-2016 NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_provenance.
- NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_assertion wasGeneratedBy ECO_0000203 NP1184033.RAEqUfqUt2GvrXoHLiUr8E3HYg-5sNoolB9udwejmPrTI130_provenance.