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- source_evidence_literature type ECO_0000212 NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.
- NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_assertion description "[Here we use the three-dimensional structure of AGA to predict structural consequences of AGU mutations, including six novel mutations, and make an effort to characterize every known disease mutation by dissecting the effect of mutations on intracellular stability, maturation, transport and the activity of AGA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.
- NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_assertion evidence source_evidence_literature NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.
- NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_assertion SIO_000772 11309371 NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.
- NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_assertion wasDerivedFrom befree-20150227 NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.
- NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_assertion wasGeneratedBy ECO_0000203 NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP228097.RAa996AiAaolQ_EzN1SguHraCYA0xrIiAaPfSEECuyHsk130_provenance.