Varaico: Literature-Extracted Genetic Variants

Gene:TCN2
Variant:p.R215W
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TCN2

NM_000355.4:p.R215W

Associated Papers

Vitamin B12 binding to mutated human transcobalamin, in-silico study of TCN2 alanine scanning and ClinVar missense mutations/SNPs.

Abuyaman O et al.

Journal of Biomolecular Structure & Dynamics, 2023

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

El Hawary RE et al.

Journal of Clinical Immunology, 2022

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.

Renard E et al.

Human Genetics, 2019

Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay.

Sobczyńska-Malefora A et al.

European Journal of Clinical Investigation, 2016

Polymorphisms in transcobalamin II gene is associated with coronary artery disease in Indian population.

Garg G et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2012

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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."