Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.P242insFs
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SLC19A2

NM_006996.3:p.P242insFs

Associated Papers

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.

Wu S et al.

American Journal of Medical Genetics. Part A, 2022

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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."