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P576: Impact of processed pseudogene insertions in genetic ..:
Tripolszki, Kornelia
;
Martini, Javier
;
Kampe, Kapil
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100623 , 2023
Link:
https://doi.org/10.1016/j.gimo.2023.100623
RT Journal T1
P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2023.100623&Exemplar=1&LAN=DE A1 Tripolszki, Kornelia A1 Martini, Javier A1 Kampe, Kapil A1 Karageorgou, Vasiliki A1 Almuhaizea, Mohamed A1 Pereira, Catarina A1 Weissgraeber, Stephanie A1 Paknia, Omid A1 Pinto-Basto, Jorge A1 Bauer, Peter PB Elsevier BV YR 2023 SN 2949-7744 JF Genetics in Medicine Open VO 1 IS 1 SP 100623 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2023.100623 DO https://doi.org/10.1016/j.gimo.2023.100623 SF ELIB - SuUB Bremen
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