Varaico: Literature-Extracted Genetic Variants

Gene:SF3B4
Variant:p.W30fs
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SF3B4

NM_005850.5:p.W30fs

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."