Associated Papers
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
35331022 (PubMed )
Supplement: sj-xlsx-1-cpc-10.1177_10556656221089156.xlsx › Sheet1
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Petit F et al.
Clinical Genetics, 2014
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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