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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSEN54

Variant:p.R344insFs

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TSEN54

NM_207346.3:p.R344insFs

hg38:chr17:75522112 G>GC

Associated Papers

Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.

Zakaria RBM et al.

Cerebellum (london, England), 2024

36971923 (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."