Associated Papers
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Uguen K et al.
Nature Communications, 2026
41577671 (PubMed )
Supplement: 41467_2026_68284_MOESM3_ESM.xlsx › Feuil4
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Chettle J et al.
Hgg Advances, 2024
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