RARS1‐related developmental and epileptic encephalopathy
Abstract Objective Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such as hypomyelinating leukodystrophy‐9 and developmental and epileptic encephalopathy (DEE). This study aimed t...
| Автори: | , , , , , , , , |
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| Формат: | Стаття |
| Мова: | English |
| Опубліковано: |
Wiley
2023-09-01
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| Серія: | Epilepsia Open |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1002/epi4.12751 |