Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_assertion> ?p ?o ?g. }
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- NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_assertion type Assertion NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_head.
- NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_assertion description "[Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth type 2D or distal spinal muscular atrophy type V. Here, we characterise a new mouse mutant, Gars(C201R), with a point mutation that leads to a non-conservative substitution within GARS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_provenance.
- NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_assertion evidence source_evidence_literature NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_provenance.
- NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_assertion SIO_000772 19470612 NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_provenance.
- NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_assertion wasDerivedFrom befree-20140225 NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_provenance.
- NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_assertion wasGeneratedBy ECO_0000203 NP914485.RAAlSH5tHienQGOIjLUvMphrla-yXMuaVWz6BO_EIqTk8130_provenance.