Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A2
Variant:p.P94L
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SLC29A2

NM_001532.3:p.P94L

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Functional characterization and haplotype analysis of polymorphisms in the human equilibrative nucleoside transporter, ENT2.

Owen RP et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2006

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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."