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The New England Journal of Medicine|April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>André B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
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