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Description
(PubMed) Melse-Boonstra A, Jaiswal N

SLC6A8 gene-related CDS and epilepsy The SLC6A8 gene is located on chromosome Xq28 and contains 13 exons spanning 8.5 kb of genomic DNA [35]

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Gen Subj

44 Clinical descriptions of younger patients with duplications or with functional disomy of the Xq28 region have also noted severe hypotonia with or without the development of microcephaly, and interestingly cryptorchidism in males
