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- source_evidence_literature type ECO_0000212 NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.
- NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_assertion description "[Autosomal dominant gain-of-function truncations of CXCR4 are associated with warts, hypo-gammaglobulinemia, infections, and myelokathexis (WHIM) syndrome, a primary immunodeficiency disorder characterized by neutropenia and recurrent infections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.
- NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_assertion evidence source_evidence_literature NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.
- NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_assertion SIO_000772 20592249 NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.
- NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_assertion wasDerivedFrom befree-2016 NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.
- NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_assertion wasGeneratedBy ECO_0000203 NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.
- befree-2016 importedOn "2016-02-19" NP822693.RA-15Rq23Wy7ygJFu8r22C4psiNwqzHvJX07SQSftkgqM130_provenance.