Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_assertion> ?p ?o ?g. }
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- NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_assertion type Assertion NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_head.
- NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_assertion wasGeneratedBy ECO_0000203 NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_provenance.
- NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_assertion wasDerivedFrom befree-20140225 NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_provenance.
- NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_assertion SIO_000772 21319362 NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_provenance.
- NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_assertion evidence source_evidence_literature NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_provenance.
- NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_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." NP919992.RA_-xSGKtNtIfa3yK-viaSl3YPCSZxF96aAUSMt-_KQ0A130_provenance.