Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.
- NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_assertion description "[Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.
- NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_assertion evidence source_evidence_literature NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.
- NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_assertion SIO_000772 23773965 NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.
- NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_assertion wasDerivedFrom befree-2016 NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.
- NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_assertion wasGeneratedBy ECO_0000203 NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1086621.RABBgyQ7cJwFMPRLhRZBbZbLFTR-xUt60yiYq0M7Pu2yk130_provenance.