Varaico: Literature-Extracted Genetic Variants

Gene:ATIC
Variant:p.K552*
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ATIC

NM_004044.7:p.K552*

Associated Papers

AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.

Ramond F et al.

Journal of Inherited Metabolic Disease, 2020

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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."