Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.A385V
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SLC2A10

NM_030777.4:p.A385V

Associated Papers

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Fang M et al.

Scientific Reports, 2017

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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."