Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.R313*
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TCN2

NM_000355.4:p.R313*

Associated Papers

Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency.

Luo J et al.

Frontiers in Genetics, 2022

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

Zhan S et al.

Bmc Pediatrics, 2020

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Trakadis YJ et al.

Journal of Inherited Metabolic Disease, 2014

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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."