Varaico: Literature-Extracted Genetic Variants

Gene:ATIC
Variant:p.Q440_V441Splc
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ATIC

NM_004044.7:p.Q440_V441Splc

Associated Papers

Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency.

Joy P et al.

Brain & Development, 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."