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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NT5C2

Variant:p.S237_R238insFs

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NT5C2

NM_001351169.2:p.S237_R238insFs

hg38:chr10:103097351 G>GCC

Associated Papers

Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.

Zanella A et al.

British Journal of Haematology, 2006

16611302 (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."