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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTF2H2

Variant:p.E230insFs

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GTF2H2

NM_001515.4:p.E230insFs

hg38:chr5:71048074 T>TA

Associated Papers

Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.

Seidle HF et al.

The Journal of Biological Chemistry, 2005

15790557 (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."