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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ENDOU

Variant:p.F202del1

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ENDOU

NM_001172439.2:p.F202del1

hg38:chr12:47716444 TGAA>T

Associated Papers

Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.

Moreno CAM et al.

Scientific Reports, 2025

40089535 (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."