Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
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Published:2022-09
Issue:9
Volume:24
Page:1927-1940
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
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 BjörnORCID
Subject
Genetics (clinical)
Cited by
2 articles.
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