Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_assertion> ?p ?o ?g. }
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- NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_assertion type Assertion NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_head.
- NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_assertion description "[A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_provenance.
- NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_assertion evidence source_evidence_literature NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_provenance.
- NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_assertion SIO_000772 15159500 NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_provenance.
- NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_assertion wasDerivedFrom befree-2016 NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_provenance.
- NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_assertion wasGeneratedBy ECO_0000203 NP445315.RAW_rByYfkim0RQ0pdjDl7hp38D7oRRYpef9EMthOi9PE130_provenance.