CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.
Cao X, Wolf A, Kim SE, Cabrera RM, Wlodarczyk BJ, Zhu H, Parker M, Lin Y, Steele JW, Han X, Ramaekers VT, Steinfeld R, Finnell RH, Lei Y
J Med Genet. 2021 Jul;58(7):484-494. doi: 10.1136/jmedgenet-2020-106987. Epub 2020 Aug 20.
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