Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.
- NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_assertion description "[Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.
- NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_assertion evidence source_evidence_curated NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.
- NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_assertion SIO_000772 25730767 NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.
- NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_assertion wasDerivedFrom ctd_human-2016 NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.
- NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_assertion wasGeneratedBy ECO_0000218 NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP35284.RASoBzcrrE7tKvTZjE40UYN_COE5h4R0EmefY-v_SnhXI130_provenance.