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Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; [...]

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

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  • Media type: E-Article
  • Title: Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
  • Contributor: Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; [...]
  • imprint: Elsevier BV, 2019
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2019.03.005
  • ISSN: 0002-9297
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote:
  • Access State: Open Access