Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.Q81*
Back to variants list

TCN2

NM_000355.4:p.Q81*

Associated Papers

Transcobalamin II Deficiency in an Infant with a Novel Mutation.

Toret E et al.

Turkish Archives of Pediatrics, 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

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.

Kose E et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."