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1 - 2 of 2 results found for SLC6A8.

  1. Further delineation of BCAP31-linked intellectual disability: description of 17 new...

    The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF) and one missense).

  2. Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with...

    A female patient with non-syndromic mental retardation was shown by high resolution GTL banding to have inherited an apparently balanced translocation, 46,X,t(X;8)(q28;q12)mat. Replication studies in the mother and daughter showed a skewed X

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