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- source_evidence_literature type ECO_0000212 NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.
- NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion description "[The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.
- NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion evidence source_evidence_literature NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.
- NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion SIO_000772 24807585 NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.
- NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion wasDerivedFrom befree-2016 NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.
- NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion wasGeneratedBy ECO_0000203 NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance.