Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.
- NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_assertion description "[Considering genotype-phenotype correlation, we suggest screening of the most common mutation, the c.428 _ 451 dup mutation by PCR, in patients with infantile spasm syndrome, Partington syndrome and non-syndromic X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.
- NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_assertion evidence source_evidence_literature NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.
- NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_assertion SIO_000772 17613295 NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.
- NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_assertion wasDerivedFrom lhgdn-20090331 NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.
- NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_assertion wasGeneratedBy ECO_0000203 NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP226910.RAj6TW5kLooUCCcZbNeZQ5rUNcqtoY4vK6XMfNAdZjfes130_provenance.