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- source_evidence_literature type ECO_0000212 NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.
- NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_assertion description "[In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.
- NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_assertion evidence source_evidence_literature NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.
- NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_assertion SIO_000772 9989622 NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.
- NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_assertion wasDerivedFrom befree-20150227 NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.
- NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_assertion wasGeneratedBy ECO_0000203 NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP411392.RAb1lfr2397kmkygFKque_vX9ISTfICP7Sk9VcE2wPpc8130_provenance.