RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity
Bertoli-Avella, Aida M.; Ganoza, Christian A.; Ferreira, Mariana; Najafi, Maryam; Polla, Daniel L.; Kandaswamy, Krishna; Tripolszki, Kornelia; Bauer, Peter; Basto, Jorge Pinto.png)
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