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Q24316931-02C321A3-026F-441D-BC9C-62E039CE09AE
Q24316931-02C321A3-026F-441D-BC9C-62E039CE09AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24316931-02C321A3-026F-441D-BC9C-62E039CE09AE
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment
P2860
Q24316931-02C321A3-026F-441D-BC9C-62E039CE09AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24316931-02C321A3-026F-441D-BC9C-62E039CE09AE
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type
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Statement
wasDerivedFrom
5bf8ab62a320e1c1a265ce3be56afef1f0c69da3
P2860
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.