DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Bernier FP, Caluseriu O, Ng S , et al; FORGE Canada Consortium.
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Am J Hum Genet 2012;
90 (5) 925-933
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