Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.T135insFs
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SLC19A2

NM_006996.3:p.T135insFs

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

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.

Li X et al.

Bmc Pediatrics, 2019

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V et al.

Bmc Medicine, 2017

29207974 (PubMed )
Supplement: 12916_2017_977_MOESM1_ESM.pdf
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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."