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Details on Person Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
| Class:Id | LiteratureReference:9852648 |
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| _displayName | Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation |
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| _timestamp | 2023-11-06 05:34:45 |
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| author | [Person:9852649] Tulli, Susanna
[Person:9852620] Del Bondio, Andrea
[Person:9852611] Baderna, Valentina
[Person:9009046] Mazza, Davide
[Person:9852565] Codazzi, Franca
[Person:9852580] Pierson, Tyler Mark
[Person:9852633] Ambrosi, Alessandro
[Person:9852630] Nolte, Dagmar
[Person:5602239] Goizet, Cyril
[Person:9823209] Toro, Camilo
[Person:9852637] Baets, Jonathan
[Person:9852661] Deconinck, Tine
[Person:9852592] DeJonghe, Peter
[Person:9852555] Mandich, Paola
[Person:5620954] Casari, Giorgio
[Person:9852550] Maltecca, Francesca |
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| created | [InstanceEdit:9852591] May, Bruce, 2023-11-06 |
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| journal | J Med Genet |
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| pages | 499-511 |
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| pubMedIdentifier | 30910913 |
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| title | Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation |
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| volume | 56 |
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| year | 2019 |
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| (literatureReference) | [Summation:9839661] AFG3L2 (m-AAA+) is a hexameric zinc metalloprotease that is ... |
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