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De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila

Publication ,  Conference
Straub, J; Konrad, EDH; Gruener, J; Toutain, A; Bok, LA; Cho, MT; Crawford, HP; Dubbs, H; Douglas, G; Jobling, R; Johnson, D; Krock, B ...
Published in: EUROPEAN JOURNAL OF HUMAN GENETICS
July 1, 2019

Duke Scholars

Published In

EUROPEAN JOURNAL OF HUMAN GENETICS

EISSN

1476-5438

ISSN

1018-4813

Publication Date

July 1, 2019

Volume

27

Start / End Page

850 / 851

Location

Milan, ITALY

Publisher

NATURE PUBLISHING GROUP

Conference Name

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics
 

Citation

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MLA
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Straub, J., Konrad, E. D. H., Gruener, J., Toutain, A., Bok, L. A., Cho, M. T., … Zweier, C. (2019). De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. In EUROPEAN JOURNAL OF HUMAN GENETICS (Vol. 27, pp. 850–851). Milan, ITALY: NATURE PUBLISHING GROUP.
Straub, J., E. D. H. Konrad, J. Gruener, A. Toutain, L. A. Bok, M. T. Cho, H. P. Crawford, et al. “De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila.” In EUROPEAN JOURNAL OF HUMAN GENETICS, 27:850–51. NATURE PUBLISHING GROUP, 2019.
Straub J, Konrad EDH, Gruener J, Toutain A, Bok LA, Cho MT, et al. De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. In: EUROPEAN JOURNAL OF HUMAN GENETICS. NATURE PUBLISHING GROUP; 2019. p. 850–1.
Straub, J., et al. “De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila.” EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, NATURE PUBLISHING GROUP, 2019, pp. 850–51.
Straub J, Konrad EDH, Gruener J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzales XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Study DDD, Fliedner A, Gregor A, Sticht H, Zweier C. De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. EUROPEAN JOURNAL OF HUMAN GENETICS. NATURE PUBLISHING GROUP; 2019. p. 850–851.

Published In

EUROPEAN JOURNAL OF HUMAN GENETICS

EISSN

1476-5438

ISSN

1018-4813

Publication Date

July 1, 2019

Volume

27

Start / End Page

850 / 851

Location

Milan, ITALY

Publisher

NATURE PUBLISHING GROUP

Conference Name

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics