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- source_evidence_literature type ECO_0000212 NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.
- befree-2016 importedOn "2016-02-19" NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.
- NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_assertion wasGeneratedBy ECO_0000203 NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.
- NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_assertion wasDerivedFrom befree-2016 NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.
- NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_assertion SIO_000772 16465618 NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.
- NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_assertion evidence source_evidence_literature NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.
- NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_assertion description "[The ACY1-deficient individuals were ascertained through urine metabolic screening because of unspecific psychomotor delay (one subject), psychomotor delay with atrophy of the vermis and syringomyelia (one subject), marked muscular hypotonia (one subject), and follow-up for early treated biotinidase deficiency and normal clinical findings (one subject).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP535063.RAyKye3TLwXMFiu7E69TIlTggWIfXFqOujSRha20Fz--0130_provenance.