Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.
Ulhaq ZS et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2023
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2020
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC et al.
Human Genetics, 2013
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Bernier FP et al.
American Journal of Human Genetics, 2012
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