Varaico: Literature-Extracted Genetic Variants

Gene:TOE1
Variant:p.N191S
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TOE1

NM_025077.4:p.N191S

Associated Papers

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Cavusoglu D et al.

Cerebellum (london, England), 2024

38622473 (PubMed )
Supplement: 12311_2024_1690_MOESM1_ESM.xlsx › Sayfa1

Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.

Kuroda Y et al.

Journal of Human Genetics, 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."