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- source_evidence_literature type ECO_0000212 NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.
- NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_assertion description "[Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.
- NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_assertion evidence source_evidence_literature NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.
- NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_assertion SIO_000772 20725928 NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.
- NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_assertion wasDerivedFrom befree-20150227 NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.
- NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_assertion wasGeneratedBy ECO_0000203 NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.
- befree-20150227 importedOn "2015-02-27" NP856468.RAxKWi_kvp3DYYBX2jz8E1-gecOQsX7ujf5CtPpMijI00130_provenance.