Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.R399*
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TCN2

NM_000355.4:p.R399*

Associated Papers

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

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

Transcobalamin deficiency: vitamin B12 deficiency with normal serum B12 levels.

Khera S et al.

Bmj Case Reports, 2019

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

Trakadis YJ et al.

Journal of Inherited Metabolic Disease, 2014

Transcobalamin (TC) deficiency and newborn screening.

Prasad C et al.

Journal of Inherited Metabolic Disease, 2012

Transcobalamin II deficiency at birth.

Ratschmann R et al.

Molecular Genetics and Metabolism, 2009

Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Prasad C et al.

Journal of Inherited Metabolic Disease, 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."