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Paper Details

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Am J Hum Genet
133
2012
Haploinsufficiency of SF3B4, Nager syndrome, SF3B4, U2 pre-mRNA spliceosomal complex, acrofacial dysostoses, haploinsufficiency of SF3B4

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