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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease thiamine-responsive megaloblastic anemia syndrome
Comorbidity C0011849|diabetes mellitus
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PubMedID- 20835854 Thiamine-responsive megaloblastic anemia (trma) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in slc19a2, encoding a thiamine transporter protein.

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