Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.S142F
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SLC19A1

NM_194255.4:p.S142F

Associated Papers

Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.

Lagarde WH et al.

American Journal of Medical Genetics. Part A, 2004

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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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."