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- source_evidence_literature type ECO_0000212 NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.
- NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_assertion wasGeneratedBy ECO_0000203 NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.
- NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_assertion wasDerivedFrom befree-20150227 NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.
- NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_assertion SIO_000772 21319362 NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.
- NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_assertion evidence source_evidence_literature NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.
- NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_assertion description "[Sequence analysis of the UGT1A1 gene revealed that she was a compound heterozygote with p.[G71R; Y486D] + [Y486D] mutations, which suggests Crigler-Najjar syndrome type II rather than GS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP913115.RA9kh5ziZZ8TpwQ9e11N11hYmeLLOLswXBMv96au0GoxM130_provenance.