Associated Papers
Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization.
Zavala L et al.
Biorxiv : the Preprint Server for Biology, 2025
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.
Kuroda Y et al.
Journal of Human Genetics, 2024
Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7.
Wu ZF et al.
American Journal of Medical Genetics. Part A, 2024
Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of TOE1 in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report.
Jo YH et al.
Annals of Clinical and Laboratory Science, 2023
Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7.
Wang C et al.
Gene, 2023
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