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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

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Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion. The affected individuals are predisposed to nephrolithiasis and recurrent episodes of exercise-induced acute kidney injury. | A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

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Đang chuẩn bị liên kết để tải về tài liệu: A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia