Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.G143Splc
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TCN2

NM_000355.4:p.G143Splc

Associated Papers

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency.

Pongphitcha P et al.

Bmc Pediatrics, 2022

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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."