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Q50502116-988E17B3-01E6-45CD-9587-552D0221584C
Q50502116-988E17B3-01E6-45CD-9587-552D0221584C
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Statement
http://www.wikidata.org/entity/statement/Q50502116-988E17B3-01E6-45CD-9587-552D0221584C
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
P2860
Q50502116-988E17B3-01E6-45CD-9587-552D0221584C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50502116-988E17B3-01E6-45CD-9587-552D0221584C
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wasDerivedFrom
5fdc3561581e3f46e4ac36cbb4e75ba7c697deac
P2860
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.