Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_assertion> ?p ?o ?g. }
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- NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_assertion type Assertion NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_head.
- NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_assertion description "[Exome sequencing studies showed a homozygous splice site mutation in SETX, which is known to cause Spinocerebellar Ataxia, Autosomal Recessive 1 (SCAR1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_provenance.
- NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_assertion evidence source_evidence_literature NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_provenance.
- NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_assertion SIO_000772 23947751 NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_provenance.
- NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_assertion wasDerivedFrom befree-20140225 NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_provenance.
- NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_assertion wasGeneratedBy ECO_0000203 NP780607.RA8Yk7GXZECPvsSIiprWBbL6eXBmrwyiI8jB6lHuUCYp8130_provenance.