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A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.

Authors :
Kuroda Y
Matsufuji M
Enomoto Y
Osaka H
Takanashi JI
Yamamoto T
Numata-Uematsu Y
Tabata K
Kurosawa K
Inoue K
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2245-2248. Date of Electronic Publication: 2023 May 03.
Publication Year :
2023

Details

Language :
English
ISSN :
1552-4833
Volume :
191
Issue :
8
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Report
Accession number :
37134193
Full Text :
https://doi.org/10.1002/ajmg.a.63229