Varaico: Literature-Extracted Genetic Variants

Gene:TOE1
Variant:p.F492L
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TOE1

NM_025077.4:p.F492L

Associated Papers

Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.

Ghasemi MR et al.

Bmc Medical Genomics, 2024

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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."