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A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis

Published Online: 2024-07-01

Published Print: 2024-11

Authors

Yoneno, Shota

Yamamoto, Kaoru

Tabata, Kenshiro

Shimizu-Motohashi, Yuko

Tomita, Ayaka

Hayashi, Taiju

Maki, Hiroyuki

Sato, Noriko

Inoue, Ken https://orcid.org/0000-0002-7391-0799
Saitsu, Hirotomo https://orcid.org/0000-0003-0723-0960
Komaki, Hirofumi
Funding

Funding for this research was provided by:

National Center of Neurology and Psychiatry (the Intramural Research Grant (3-6))

Japan Agency for Medical Research and Development (JP23ek0109637, JP23ek0109637)

Ministry of Health, Labour and Welfare (JPMH21FC1015, JPMH21FC1015)
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Text and Data Mining valid from 2024-07-01

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Article History

Received: 17 May 2024

Revised: 18 June 2024

Accepted: 20 June 2024

First Online: 1 July 2024

Competing interests

: The authors declare no competing interests.

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