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Q35597975-CFD4EE06-6794-4B4A-A63F-CFAA9DA14DAB
Q35597975-CFD4EE06-6794-4B4A-A63F-CFAA9DA14DAB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35597975-CFD4EE06-6794-4B4A-A63F-CFAA9DA14DAB
Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
P2860
Q35597975-CFD4EE06-6794-4B4A-A63F-CFAA9DA14DAB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35597975-CFD4EE06-6794-4B4A-A63F-CFAA9DA14DAB
rank
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type
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wasDerivedFrom
ae37c4e057c870fb5dfc0b54cb80cda7cab48540
P2860
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.