Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.
- NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_assertion description "[Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.
- NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_assertion evidence source_evidence_curated NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.
- NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_assertion SIO_000772 23542699 NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.
- NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_assertion wasDerivedFrom ctd_human-2016 NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.
- NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_assertion wasGeneratedBy ECO_0000218 NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP32785.RABwicCqHhA848xYreNZjZke_q7_FD_CkQWs0QfjVT3Ys130_provenance.