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1
Q48166084-52E05339-87B2-479C-AEA1-AFF67DBBFDE5
Q48166084-52E05339-87B2-479C-AEA1-AFF67DBBFDE5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48166084-52E05339-87B2-479C-AEA1-AFF67DBBFDE5
The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.
P2860
Q48166084-52E05339-87B2-479C-AEA1-AFF67DBBFDE5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48166084-52E05339-87B2-479C-AEA1-AFF67DBBFDE5
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
fdbf377ce456bd2b514d5e5b207c0eab48e0a586
P2860
The role of cystathionine beta-synthase in homocysteine metabolism