A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

Laura L Klitten, Rikke S Møller, Marina Nikanorova, Asli Silahtaroglu, Helle Hjalgrim, Niels Tommerup

23 Citations (Scopus)

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Medicine & Life Sciences