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- source_evidence_literature type ECO_0000212 NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.
- NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_assertion description "[Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.
- NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_assertion evidence source_evidence_literature NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.
- NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_assertion SIO_000772 19409520 NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.
- NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_assertion wasDerivedFrom befree-2016 NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.
- NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_assertion wasGeneratedBy ECO_0000203 NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.
- befree-2016 importedOn "2016-02-19" NP736044.RAgcYu01dxVCyXB-FE4Tw5QvtO4dK6yYzBebHxkQ-LARE130_provenance.