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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NT5C

Variant:p.I129insFs

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NT5C

NM_014595.3:p.I129insFs

hg38:chr17:75130818 A>AT

Associated Papers

Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.

Balta G et al.

Blood, 2003

12714505 (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."