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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik‐Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel‐Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell

2020The American Journal of Human Genetics50 citationsDOIOpen Access PDF

Topics & Concepts

RNA editingMicrocephalyEpilepsyBiologyGeneticsRNAIntellectual disabilityGeneAlleleNeuroscienceRNA regulation and diseaseRNA Research and SplicingRNA and protein synthesis mechanisms
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