INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
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| Date de publication | |
| Auteurs | Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmuller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G and Roos A |
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| Année | 2,021 |
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| Impact Factor | 13.5 |
| Institut | JACOB |
| url DOI | 10.1093/brain/awab133 |