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- source_evidence_literature type ECO_0000212 NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.
- NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_assertion description "[Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.
- NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_assertion evidence source_evidence_literature NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.
- NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_assertion SIO_000772 25505245 NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.
- NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_assertion wasDerivedFrom befree-2016 NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.
- NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_assertion wasGeneratedBy ECO_0000203 NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1248136.RAn720yhHFKxtCcFAhHSXD7BFjsz_9KzohyFwB79d4qLA130_provenance.