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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPK1

Variant:p.R171fs

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TPK1

NM_022445.4:p.R171fs

hg38:chr7:144548593 CCT>N

Associated Papers

Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.

Zhao D et al.

Frontiers in Pediatrics, 2023

37622082 (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."