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A novel intronic variant inUBE3Aidentified by genome sequen..:
Curtis, Meredith
;
Baribeau, Danielle
;
Walker, Susan
...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2145-2151 , 2020
Link:
https://doi.org/10.1002/ajmg.a.61740
RT Journal T1 <Title>A novel intronic variant inUBE3Aidentified by genome sequencing in a patient with an atypical presentation of Angelman syndrome</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.61740&Exemplar=1&LAN=DE A1 Curtis, Meredith A1 Baribeau, Danielle A1 Walker, Susan A1 Carter, Melissa A1 Costain, Gregory A1 Lamoureux, Sylvia A1 Liston, Eriskay A1 Marshall, Christian R. A1 Reuter, Miriam S. A1 Snell, Meaghan A1 Summers, Jane A1 Vorstman, Jacob A1 Jobling, Rebekah K. PB Wiley YR 2020 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 182 IS 9 SP 2145 OP 2151 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.61740 DO https://doi.org/10.1002/ajmg.a.61740 SF ELIB - SuUB Bremen
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