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- Title
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
- Authors
Briere, Lauren C.; Walker, Melissa A.; High, Frances A.; Cooper, Cynthia; Rogers, Cassandra A.; Callahan, Christine J.; Ryosuke Ishimura; Yoshinobu Ichimura; Caruso, Paul A.; Sharma, Nutan; Brokamp, Elly; Koziura, Mary E.; Mohammad, Shekeeb S.; Dale, Russell C.; Riley, Lisa G.; Phillips, John A.; Masaaki Komatsu; Sweetser, David A.
- Subjects
PHENOTYPES; UBIQUITINATION; POST-translational modification; PROTEIN-protein interactions; HOMODIMERS
- Publication
Cold Spring Harbor Molecular Case Studies, 2021, Vol 7, Issue 3, p1
- ISSN
2373-2873
- Publication type
Article
- DOI
10.1101/mcs.a005827