Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders
Document Type
Article
Department
Institute for Human Development
Publication (Name of Journal)
The American Journal of Human Genetics
DOI
https://www.cell.com/ajhg/abstract/S0002-9297(25)00357-X
Recommended Citation
Bou-Rouphael, J.,
Cospain, A.,
Courtin, T.,
Keren, B.,
Marie, C.,
Lesieur-Sebellin, M.,
Heron, D.,
Sainte Agathe, J.,
Heide, S.,
Abubakar, A.
(2025). Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders. The American Journal of Human Genetics.
Available at:
https://ecommons.aku.edu/eastafrica_ihd/236
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