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- source_evidence_literature type ECO_0000212 NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.
- NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_assertion description "[Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.
- NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_assertion evidence source_evidence_literature NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.
- NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_assertion SIO_000772 9463307 NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.
- NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_assertion wasDerivedFrom befree-20150227 NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.
- NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_assertion wasGeneratedBy ECO_0000203 NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP761443.RARLhqX4NrbUusybBHg3K8qja4Tjztvmaa7YEo1kBmEkI130_provenance.