Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N., Schnur R.E., Douzgou S., Hiatt S.M., Rustad C.F., Brown N.J., Earl D.L., Keren B., Levchenko O., Geuer S. et al., 2021/05/06. American journal of human genetics, 108 (5) pp. 857-873. Peer-reviewed.
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