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- source_evidence_literature type ECO_0000212 NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.
- NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_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." NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.
- NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_assertion evidence source_evidence_literature NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.
- NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_assertion SIO_000772 18264947 NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.
- NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_assertion wasDerivedFrom befree-2016 NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.
- NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_assertion wasGeneratedBy ECO_0000203 NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.
- befree-2016 importedOn "2016-02-19" NP654801.RA-_3zneF2r8CjGKUmrZuB_p1iYsw6lkP8jBzArRbjV-8130_provenance.