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A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2023-08, Vol.191 (8), p.2245-2248
Main Authors: Kuroda, Yukiko, Matsufuji, Mayumi, Enomoto, Yumi, Osaka, Hitoshi, Takanashi, Jun‐Ichi, Yamamoto, Toshiyuki, Numata‐Uematsu, Yurika, Tabata, Kenshiro, Kurosawa, Kenji, Inoue, Ken
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Language:English
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.63229