Bibliographic Details
| Title: |
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features |
| Authors: |
Kornak, Uwe, Saha, Namrata, Keren, Boris, Neumann, Alexander, Taylor Tavares, Ana Lisa, Piard, Juliette, Kopp, Johannes, Rodrigues Alves, João Guilherme, Rodríguez de los Santos, Miguel, El Choubassi, Naji, Ehmke, Nadja, Jäger, Marten, Spielmann, Malte, Pantel, Jean Tori, Lejeune, Elodie, Fauler, Beatrix, Mielke, Thorsten, Hecht, Jochen, Meierhofer, David, Strom, Tim M., Laugel, Vincent, Brice, Alexis, Mundlos, Stefan, Bertoli-Avella, Aida, Bauer, Peter, Heyd, Florian, Boute, Odile, Dupont, Juliette, Depienne, Christel, Van Maldergem, Lionel, Fischer-Zirnsak, Björn |
| Source: |
In Genetics in Medicine September 2022 24(9):1927-1940 |
| Database: |
ScienceDirect |
