Varaico: Literature-Extracted Genetic Variants

Gene:ATP11A
Variant:p.L9F
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ATP11A

NM_015205.3:p.L9F

Associated Papers

Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.

Alharbi H et al.

Journal of Inherited Metabolic Disease, 2023

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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."