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- source_evidence_literature type ECO_0000212 NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.
- NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_assertion description "[To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.
- NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_assertion evidence source_evidence_literature NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.
- NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_assertion SIO_000772 25847462 NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.
- NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_assertion wasDerivedFrom befree-2016 NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.
- NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_assertion wasGeneratedBy ECO_0000203 NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1276243.RAvRuWcYyzLfLwjo-sPQJDQslrNgeLECrScQ22ckGg1oE130_provenance.