Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.Q325*
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TCN2

NM_000355.4:p.Q325*

Associated Papers

Vacuolization of large myeloid lineage and absence of erythroblast and megakaryocyte: Clues to the diagnosis of hereditary transcobalamin II deficiency.

Luo X et al.

Pediatric Blood & Cancer, 2023

[Clinical and genetic analysis of a child with transcobalamin II deficiency].

Yang C et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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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."