Associated Papers
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
De Jonghe J et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
Benoit-Pilven C et al.
Plos One, 2020
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
Benaglio P et al.
Molecular Vision, 2014
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