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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC29A1

Variant:p.T387_V388Fs

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SLC29A1

NM_001372327.1:p.T387_V388Fs

hg38:chr6:44232907 CTG>C

Associated Papers

Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization.

Daniels G et al.

Blood, 2015

25896650 (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."