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- source_evidence_literature type ECO_0000212 NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.
- NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_assertion description "[Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.
- NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_assertion evidence source_evidence_literature NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.
- NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_assertion SIO_000772 8227344 NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.
- NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_assertion wasDerivedFrom befree-2016 NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.
- NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_assertion wasGeneratedBy ECO_0000203 NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.
- befree-2016 importedOn "2016-02-19" NP1336184.RAIGjq3tlRKrGen1RXACy5hEBQ-vy6_-8ez3vkX720HtU130_provenance.