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A novel variant in NEUROD2 in a patient with Rett-like phen..:
POLITANO, Davide
;
GANA, Simone
;
PEZZOTTI, Elena
...
Brain and Development. 45 (2023) 3 - p. 179-184 , 2023
Link:
https://doi.org/10.1016/j.braindev.2022.11.004
RT Journal T1
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.braindev.2022.11.004&Exemplar=1&LAN=DE A1 POLITANO, Davide A1 GANA, Simone A1 PEZZOTTI, Elena A1 BERARDINELLI, Angela A1 PASCA, Ludovica A1 Carmen BARBERO, Veronica A1 PICHIECCHIO, Anna A1 Maria VALENTE, Enza A1 ERRICHIELLO, Edoardo PB Elsevier BV YR 2023 SN 0387-7604 JF Brain and Development VO 45 IS 3 SP 179 OP 184 LK http://dx.doi.org/https://doi.org/10.1016/j.braindev.2022.11.004 DO https://doi.org/10.1016/j.braindev.2022.11.004 SF ELIB - SuUB Bremen
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