Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death
Author:
Funder
National Institutes of Health
Austrian Science Fund
National Ataxia Foundation
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://www.jci.org/articles/view/170882/files/pdf
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Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Proteomic screens of SEL1L-HRD1 ER-associated degradation substrates reveal its role in glycosylphosphatidylinositol-anchored protein biogenesis;Nature Communications;2024-01-22
2. Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders;Journal of Clinical Investigation;2024-01-16
3. Hypomorphic human SEL1L and HRD1 variants uncouple multilayered ER-associated degradation machinery;Journal of Clinical Investigation;2024-01-16
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