Varaico: Literature-Extracted Genetic Variants

Gene:ALG13
Variant:p.E404K
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ALG13

NM_001099922.3:p.E404K

Associated Papers

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

Pagnamenta AT et al.

American Journal of Human Genetics, 2024

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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."