LAUSR

Shifting landscapes of human MTHFR missense-variant effects

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0 Published in 2021 at "American Journal of Human Genetics"

DOI: 10.1016/j.ajhg.2021.05.009

Abstract: Summary 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.… read more here.

Keywords: mthfr variant; variant effects; missense; shifting landscapes ... See more keywords