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2017, Tenchov et al 2024) which can reduce an individual’s quality of life and lead to complications that overburden the healthcare system (Aina et al 2021)

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Nowadays, the vast majority of genes whose mutation lead to functional vitamin B 12 deficiency have been identified, and therefore, sequencing of these genes or next generation sequencing permits unequivocal diagnosis (Pupavac et al., 2016)