Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.
- NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_assertion wasGeneratedBy ECO_0000218 NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.
- NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_assertion wasDerivedFrom ctd_human-20150221 NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.
- NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_assertion SIO_000772 21552264 NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.
- NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_assertion evidence source_evidence_curated NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.
- NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_assertion description "[Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20287.RA2N-hBVIWn4Z5IyhFcZKVrtQg1FubgBN-bk9Mta8_XVk130_provenance.