Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.
- NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_assertion description "[Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.
- NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_assertion evidence source_evidence_literature NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.
- NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_assertion SIO_000772 25652408 NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.
- NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_assertion wasDerivedFrom befree-2016 NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.
- NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_assertion wasGeneratedBy ECO_0000203 NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1261069.RAu8eevhsTSZRHMGyyUPtr2HiDQQUJYCSkX_ivck5rEiY130_provenance.