Associated Papers
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.
Bruselles A et al.
European Journal of Human Genetics : Ejhg, 2025
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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