Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_assertion> ?p ?o ?g. }
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- NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_assertion type Assertion NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_head.
- NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_assertion wasGeneratedBy ECO_0000203 NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_provenance.
- NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_assertion wasDerivedFrom befree-20140225 NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_provenance.
- NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_assertion SIO_000772 21102625 NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_provenance.
- NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_assertion evidence source_evidence_literature NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_provenance.
- NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_assertion description "[A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP575613.RARPlz2N7XC_-1b1JDxIdJxTWwpe6NA9ssvQEUwVnMzr8130_provenance.