Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_assertion> ?p ?o ?g. }
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- NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_assertion type Assertion NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_head.
- NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_assertion wasGeneratedBy ECO_0000203 NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_provenance.
- NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_assertion wasDerivedFrom befree-20150227 NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_provenance.
- NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_assertion SIO_000772 21872273 NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_provenance.
- NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_assertion evidence source_evidence_literature NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_provenance.
- NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_assertion description "[Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spastic di- or tetraplegia and mental retardation due a defect of the fatty aldehyde dehydrogenase (FALDH), related to mutations in the ALDH3A2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP234915.RAuT9OOGlfS0CIpoBvNpsqz-rWVBlI3r9pc-2amABhRDI130_provenance.