Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_assertion> ?p ?o ?g. }
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- NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_assertion type Assertion NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_head.
- NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_assertion description "[In SPTLC1, we detected a novel mutation (S331F) corresponding to a previously unknown severe and early-onset HSAN phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_provenance.
- NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_assertion evidence source_evidence_literature NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_provenance.
- NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_assertion SIO_000772 19651702 NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_provenance.
- NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_assertion wasDerivedFrom gad-20130706 NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_provenance.
- NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_assertion wasGeneratedBy ECO_0000203 NP81234.RARjozuSXTjn8igrKjzEJ0SNTkG5oS9yCqZF7v6JLY1M0130_provenance.