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1 Ergebnisse
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Gain-of-function and loss-of-function GABRB3 variants lead ..:
Absalom, Nathan
;
Liao, Vivian
;
Johannesen, Katrine
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-022-29280-x. , 2022
Link:
https://hal.science/hal-03633628
RT Journal T1
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
UL https://suche.suub.uni-bremen.de/peid=base-ftunivlyon1:oai:HAL:hal-03633628v1&Exemplar=1&LAN=DE A1 Absalom, Nathan A1 Liao, Vivian A1 Johannesen, Katrine A1 Gardella, Elena A1 Jacobs, Julia A1 Lesca, Gaetan A1 Gokce-Samar, Zeynep A1 Arzimanoglou, Alexis A1 Zeidler, Shimriet A1 Striano, Pasquale A1 Meyer, Pierre A1 Benkel-Herrenbrueck, Ira A1 Mero, Inger-Lise A1 Rummel, Jutta A1 Chebib, Mary A1 Møller, Rikke A1 Ahring, Philip PB HAL CCSD; Nature Publishing Group YR 2022 K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-022-29280-x LK http://dx.doi.org/https://hal.science/hal-03633628 DO https://hal.science/hal-03633628 SF ELIB - SuUB Bremen
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