Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.S129delFs
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TCN2

NM_000355.4:p.S129delFs

Associated Papers

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

TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.

Häberle J et al.

Journal of Human Genetics, 2009

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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."