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In: Jolley RL, Brungs WA, Cotruvo JA, Cumming RB, Mattice JS, & Jacobs VA ed

carriers of a particular MTHFR variant have abnormal folate metabolism and require higher intake of folic acid to avoid deficiency

For example, C9orf72 GGGGCC repeat expansions can be translated into toxic dipeptide repeats via pathogenic non-AUG repeat-associated (RAN) translation