Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.
- NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_assertion wasGeneratedBy ECO_0000218 NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.
- NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_assertion wasDerivedFrom ctd_human-20150221 NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.
- NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_assertion SIO_000772 12612583 NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.
- NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_assertion evidence source_evidence_curated NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.
- NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_assertion description "[We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP14904.RAeqhIfTsgCzkUpvXU-spW4XZ0f1HBVi76etvlcn3FTqk130_provenance.