Varaico: Literature-Extracted Genetic Variants

Gene:FBXO28
Variant:p.L324_R325Fs
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FBXO28

NM_015176.4:p.L324_R325Fs

Associated Papers

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.

Balak C et al.

American Journal of Medical Genetics. Part A, 2018

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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."