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Research output

1. A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

   Research output: Contribution to journal › Letter › Academic › peer-review

2. Glutaminase deficiency caused by short tandem repeat expansion in GLS

   Research output: Contribution to journal › Article › Academic › peer-review

3. Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder

   Research output: Contribution to journal › Article › Academic › peer-review

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