Associated Papers
Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia.
Mohsen-Pour N et al.
Laboratory Medicine, 2022
Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.
Ding Y et al.
Journal of Diabetes Investigation, 2021
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.
Kang P et al.
Frontiers in Pediatrics, 2021
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
Li X et al.
Bmc Pediatrics, 2019
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