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1 Ergebnisse
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A recurrent de novo MAX p.Arg60Gln variant causes a syndrom..:
Harris, Erica L.
;
Roy, Vincent
;
Montagne, Martin
...
The American Journal of Human Genetics. 111 (2024) 1 - p. 119-132 , 2024
Link:
https://doi.org/10.1016/j.ajhg.2023.11.010
RT Journal T1
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2023.11.010&Exemplar=1&LAN=DE A1 Harris, Erica L. A1 Roy, Vincent A1 Montagne, Martin A1 Rose, Ailsa M.S. A1 Livesey, Helen A1 Reijnders, Margot R.F. A1 Hobson, Emma A1 Sansbury, Francis H. A1 Willemsen, Marjolein H. A1 Pfundt, Rolph A1 Warren, Daniel A1 Long, Vernon A1 Carr, Ian M. A1 Brunner, Han G. A1 Sheridan, Eamonn G. A1 Firth, Helen V. A1 Lavigne, Pierre A1 Poulter, James A. PB Elsevier BV YR 2024 SN 0002-9297 JF The American Journal of Human Genetics VO 111 IS 1 SP 119 OP 132 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2023.11.010 DO https://doi.org/10.1016/j.ajhg.2023.11.010 SF ELIB - SuUB Bremen
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