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2. De novo variants in CNOT3 cause a variable neurodevelopmental disorder

3. Erythematous nodes, urticarial rash and arthralgias in a large pedigree withNLRC 4‐related autoinflammatory disease, expansion of the phenotype

5. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

7. Renal development / Cystic diseases

8. POSTER VIEWING SESSION - REPRODUCTIVE (EPI) GENETICS

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