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Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2210122119
Abstract: Significance Smith–Magenis syndrome (SMS) is a neurodevelopmental disorder associated with autism and epileptic seizures. SMS is caused by losing one copy of the gene encoding retinoic acid induced 1 (RAI1), a ubiquitously expressed transcriptional regulator.…
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Keywords:
smith magenis;
loss rai1;
mouse;
excitability ... See more keywords