Article
Shifting landscapes of human MTHFR missense-variant effects.
American journal of human genetics - 1 Jul 2021
Weile Jochen, Kishore Nishka, Sun Song, Maaieh Ranim, Verby Marta, Li Roujia, Fotiadou Iosifina, Kitaygorodsky Julia, Wu Yingzhou, Holenstein Alexander, Bürer Céline, Blomgren Linnea, Yang Shan, Nussbaum Robert, Rozen Rima, Watkins David, Gebbia Marinella, Kozich Viktor, Garton Michael, Froese D Sean, Roth Frederick P
Abstract excerpt
Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydrofolate reductase (MTHFR), the most common inherited disorder of folate metabolism, is caused primarily by rare missense variants. Further complicating variant interpretation, variant impacts often depend on environment. An important example of this phenomenon is the MTHFR...
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