Associated Papers
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Novis LE et al.
Parkinsonism & Related Disorders, 2024
Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.
Bergmann AK et al.
The Journal of Pediatrics, 2009
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
Raz T et al.
Human Mutation, 2000
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