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
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
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
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
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.
Grarup N et al.
Plos Genetics, 2013
Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk.
Hsu FC et al.
Neurology, 2011
Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population.
Swanson DA et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2005
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