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- source_evidence_literature type ECO_0000212 NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.
- NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_assertion description "[Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.
- NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_assertion evidence source_evidence_literature NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.
- NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_assertion SIO_000772 10442562 NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.
- NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_assertion wasDerivedFrom befree-20150227 NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.
- NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_assertion wasGeneratedBy ECO_0000203 NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP530859.RA1UjsIN-D31D-USHpTIAMmVLtV4CMZ6LrwZM4YLnEYhk130_provenance.