Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_assertion> ?p ?o ?g. }
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- NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_assertion type Assertion NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_head.
- NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_assertion description "[We show that expression of human PEX7 in RCDP cells rescues PTS2 targeting and restores some activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT), a peroxisomal enzyme of plasmalogen biosynthesis, and we identify the mutations responsible for loss of function of PEX7 in a compound heterozygote RCDP patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_provenance.
- NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_assertion evidence source_evidence_literature NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_provenance.
- NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_assertion SIO_000772 9090383 NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_provenance.
- NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_assertion wasDerivedFrom befree-2016 NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_provenance.
- NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_assertion wasGeneratedBy ECO_0000203 NP1370013.RAHwBxzUaVNJoNPm7NXfoAT6kpNPhR0jd-xM5zWVM3zPI130_provenance.