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2. Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

4. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification

5. Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

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