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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADSL

Variant:p.E25A

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ADSL

NM_000026.4:p.E25A

hg38:chr22:40346632 A>C

Associated Papers

Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features.

Madison JM et al.

Iscience, 2021

33409479 (PubMed )

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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."