Shifting landscapes of human MTHFR missense-variant effects.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP.
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Am J Hum Genet. 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009.
Am J Hum Genet. 2021.
PMID: 34214447
Free PMC article.
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 miss …
Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methy …