Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.
- NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_assertion description "[Comprehensive mutation analysis in OFD1 revealed mutations in 37 female patients from 30 families; 22 mutations have not been previously described including two heterozygous deletions spanning OFD1 and neighbouring genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.
- NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_assertion evidence source_evidence_curated NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.
- NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_assertion SIO_000772 23033313 NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.
- NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_assertion wasDerivedFrom uniprot-2016 NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.
- NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_assertion wasGeneratedBy ECO_0000218 NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7238.RArf4b3HckcN9p8Vqgeu_dFZSL7t6Q-GnQ4R6ObcdZlnU130_provenance.