Varaico: Literature-Extracted Genetic Variants

Gene:SAR1B
Variant:p.E122Q
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SAR1B

NM_016103.4:p.E122Q

Associated Papers

Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

Charcosset M et al.

Molecular Genetics and Metabolism, 2008

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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."