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Paper Details

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
2
2023
5'UTR, GLS, GLS repeat, Glutaminase, Glutaminase deficiency, Patients, ataxia, cognitive deficits, developmental delay, exomes, glutaminase, glutaminase (GLS) gene, glutaminase deficiency, neuron populations, optic atrophy, patients, pyramidal tract damage, tandem CNVs, ultra-rare disorders
Author NameAffiliation
Camilo ToroNational Institutes of Health
David R AdamsNational Institutes of Health
David R AdamsNational Institutes of Health
Carlos R FerreiraNational Institutes of Health
Stephan Z??chnerDr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine
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