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- source_evidence_literature type ECO_0000212 NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.
- NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_assertion description "[The spectrum of AGL mutations in GSD IIIa patients depends on ethnic group-prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe islands, because of the founder effect, whereas heterogeneous mutations are responsible for the pathogenesis in Japanese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.
- NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_assertion evidence source_evidence_literature NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.
- NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_assertion SIO_000772 16189622 NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.
- NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_assertion wasDerivedFrom befree-2016 NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.
- NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_assertion wasGeneratedBy ECO_0000203 NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.
- befree-2016 importedOn "2016-02-19" NP515463.RASwyrOp_jSDLGU8RD-ShucUnGqRKstoLxJf1PGmgpAr4130_provenance.