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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klockner, C (author)
Leipzig University
Sticht, H (author)
Zacher, P (author)
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Popp, B (author)
Babcock, HE (author)
Bakker, DP (author)
Barwick, K (author)
Bonfert, MV (author)
Bonnemann, CG (author)
Brilstra, EH (author)
Chung, WK (author)
Clarke, AJ (author)
Devine, P (author)
Donkervoort, S (author)
Lundgren, Johan (author)
Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
Friedman, J (author)
Gates, A (author)
Ghoumid, J (author)
Hobson, E (author)
Horvath, G (author)
Keller-Ramey, J (author)
Keren, B (author)
Kurian, MA (author)
Lee, V (author)
Leppig, KA (author)
Lundgren, J (author)
McDonald, MT (author)
McTague, A (author)
Mefford, HC (author)
Mignot, C (author)
Mikati, MA (author)
Nava, C (author)
Raymond, FL (author)
Sampson, JR (author)
Sanchis-Juan, A (author)
Shashi, V (author)
Shieh, JTC (author)
Shinawi, M (author)
Slavotinek, A (author)
Stodberg, T (author)
Karolinska Institutet
Stong, N (author)
Sullivan, JA (author)
Taylor, AC (author)
Toler, TL (author)
van den Boogaard, MJ (author)
van der Crabben, SN (author)
van Gassen, KLI (author)
van Jaarsveld, RH (author)
Van Ziffle, J (author)
Wadley, AF (author)
Wagner, M (author)
Wigby, K (author)
Wortmann, SB (author)
Zarate, YA (author)
Moller, RS (author)
Lemke, JR (author)
Platzer, K (author)
Leipzig University
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 (creator_code:org_t)
et al 
Elsevier BV, 2021
2021
English.
In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 23:4, s. 653-660
  • Journal article (peer-reviewed)
Subject headings
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Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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