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                                       Details for article 9 of 19 found articles
 
 
  Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
 
 
Title: Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
Author: Fry, Andrew E.
Marra, Christopher
Derrick, Anna V.
Pickrell, William O.
Higgins, Adam T.
te Water Naude, Johann
McClatchey, Martin A.
Davies, Sally J.
Metcalfe, Kay A.
Tan, Hui Jeen
Mohanraj, Rajiv
Avula, Shivaram
Williams, Denise
Brady, Lauren I.
Mesterman, Ronit
Tarnopolsky, Mark A.
Zhang, Yuehua
Yang, Ying
Wang, Xiaodong
Rees, Mark I.
Goldfarb, Mitchell
Chung, Seo-Kyung
Appeared in: The American journal of human genetics
Paging: Volume 108 () nr. 1 pages 176-185
Year: 2021
Contents:
Publisher: American Society of Human Genetics
Source file: Elektronische Wetenschappelijke Tijdschriften
 
 

                             Details for article 9 of 19 found articles
 
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 Koninklijke Bibliotheek - National Library of the Netherlands