Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_assertion description "[Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_assertion evidence source_evidence_literature NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_assertion SIO_000772 23312594 NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_assertion wasDerivedFrom befree-2016 NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_assertion wasGeneratedBy ECO_0000203 NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.