Varaico: Literature-Extracted Genetic Variants

Gene:ACO1
Variant:p.R34H
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ACO1

NM_002197.3:p.R34H

Associated Papers

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.

Oskarsson GR et al.

Communications Biology, 2020

32327693 (PubMed )
Supplement: 42003_2020_921_MOESM2_ESM.xlsx › Supplementary_Data_4
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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."