Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

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.
Am J Hum Genet; 102(1): 44-57, 2018 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-29276004

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