Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.R128fs
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ALG13

NM_001099922.3:p.R128fs

Associated Papers

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.

Luo X et al.

Journal of Translational Medicine, 2025

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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."