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A27V). This mutation was associated with lower serum T4 levels (p  less then  0.0001) when compared to the groups that did not carry the mutation. The previously reported p.L283F mutation was also found in the proband. The hemizygous p.L283F individuals presenting with lower T4 serum and TBG levels (p  less then  0.001) when compared to wildtype males and females. Both mutations were deleterious upon SIFT and PolyPhen-2 evaluation. CONCLUSION Associated with partial thyroxine-binding globulin deficiency, this study reports a novel p.A27V