Varaico: Literature-Extracted Genetic Variants

Gene:ALG12
Variant:p.P280L
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ALG12

NM_024105.4:p.P280L

Associated Papers

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.

Koens LH et al.

Journal of Inherited Metabolic Disease, 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."