Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
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DOI: 10.1093/hmg/ddac173
Abstract: Glutaminase deficiency has recently been associated with ataxia and developmental delay due to repeat expansions in the 5'UTR of the glutaminase (GLS) gene. Patients with the described GLS repeat expansion may indeed remain undiagnosed due… read more here.
Keywords: gls; nested within; repeat; repeat expansions ... See more keywords