Varaico: Literature-Extracted Genetic Variants

Gene:SEC16B
Variant:p.R142W
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SEC16B

NM_033127.4:p.R142W

Associated Papers

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

El-Gazzar A et al.

Embo Molecular Medicine, 2023

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Buczkowicz P et al.

Nature Genetics, 2014

24705254 (PubMed )
Supplement: NIHMS4215-supplement-10.xlsx › Supplementary_Table_2
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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."