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- source_evidence_literature type ECO_0000212 NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.
- NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_assertion description "[Ten thousand seventy eight nonselected healthy members of the AJ population were tested for carrier status for the following diseases; Gaucher disease (GD), cystic fibrosis (CF), Familial dysautonomia (FD), Alpha 1 antitrypsin (A1AT), Mucolipidosis type 4 (ML4), Fanconi anemia type C (FAC), Canavan disease (CD), Neimann-Pick type 4 (NP) and Bloom syndrome (BLM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.
- NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_assertion evidence source_evidence_literature NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.
- NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_assertion SIO_000772 18264947 NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.
- NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_assertion wasDerivedFrom befree-20150227 NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.
- NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_assertion wasGeneratedBy ECO_0000203 NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP619702.RA142S3sjaXayuAxpKd3QR-fgiVosY49kjrslzJfHaKwo130_provenance.