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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila |
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Titel: |
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila |
Auteur: |
Straub, Jonas Konrad, Enrico D.H. Grüner, Johanna Toutain, Annick Bok, Levinus A. Cho, Megan T. Crawford, Heather P. Dubbs, Holly Douglas, Ganka Jobling, Rebekah Johnson, Diana Krock, Bryan Mikati, Mohamad A. Nesbitt, Addie Nicolai, Joost Phillips, Meredith Poduri, Annapurna Ortiz-Gonzalez, Xilma R. Powis, Zöe Santani, Avni Smith, Lacey Stegmann, Alexander P.A. Stumpel, Constance Vreeburg, Maaike Fliedner, Anna Gregor, Anne Sticht, Heinrich Zweier, Christiane |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 102 () nr. 1 pagina's 44-57 |
Jaar: |
2018 |
Inhoud: |
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Uitgever: |
American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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