Varaico: Literature-Extracted Genetic Variants

Gene:FBXL22
Variant:p.E44D
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FBXL22

NM_001367807.1:p.E44D

Associated Papers

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Bouhouche A et al.

Case Reports in Genetics, 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."