Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
| author |
|
| created | [InstanceEdit:9852591] May, Bruce, 2023-11-06 |
| dbId | 9852648 |
| displayName | Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation |
| journal | J Med Genet |
| pages | 499-511 |
| pubMedIdentifier | 30910913 |
| schemaClass | LiteratureReference |
| title | Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation |
| url | http://www.ncbi.nlm.nih.gov/pubmed/30910913 |
| volume | 56 |
| year | 2019 |
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