Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.A26fs
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SLC52A2

NM_001363118.2:p.A26fs

Associated Papers

Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.

Chen Z et al.

Frontiers in Pediatrics, 2026

Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2.

Ma J et al.

Stem Cell Research, 2021

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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."