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Rapid Communication | Open Access

Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7

Aijun Yanga,1, Xiaoli Konga,1, Qin Wanga, Runqing Miaoa, Haixiang Maa, Anzhuo Chub, Zhengtong Wanga, Jiaqing Lua, Bo Liua, Bingcheng Mua, Runhan Guoa, Jiayi Lia, Xiaoxiao Gongyea, Huabao Xionga ( ), Tao Zhonga( )
Jining Medical University, Jining, Shandong 272067, China
The University of Manchester, Oxford Rd, Manchester M13 9PL, UK

1 These authors contributed equally to this work.

Peer review under responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 12 Issue 1,
January 2025
Article number: 101290
DOI: 10.1016/j.gendis.2024.101290

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Cite this article:
Yang A, Kong X, Wang Q, et al. Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7. Genes & Diseases, 2025, 12(1): 101290. https://doi.org/10.1016/j.gendis.2024.101290

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Received: 01 December 2023
Published: 08 April 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).