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@ARTICLE{MichellRobinson:1048713,
author = {Michell-Robinson, Mackenzie A. and Perrier, Stefanie and
Gauthier, Samuel and Derksen, Alexa and Sabbagh, Quentin and
Girbig, Mathias and Misiaszek, Agata D. and Pizzino, Amy M.
and Renaud, Deborah L. and De Assis Pereira, Danilo and
Okuda, Paola and Maestri Karoleska, Luciana and Keller,
Stephanie and Chong, Karen and Gauquelin, Laurence and
Brais, Bernard and Leube, Barbara and Grider, Tiffany and
Shy, Michael E. and Schüle, Rebecca and Minnerop, Martina
and Bertini, Enrico and Nicita, Francesco and Tonduti,
Davide and Müller, Christoph W. and Vanderver, Adeline and
Wolf, Nicole I. and Bernard, G.},
title = {{C}omprehensive genotype-phenotype analysisin
{POLR}3-related disorders},
journal = {Human genetics and genomics advances},
volume = {6},
number = {4},
issn = {2666-2477},
address = {Cambridge, Ma.},
publisher = {Cell Press},
reportid = {FZJ-2025-04835},
pages = {100481},
year = {2025},
cin = {INM-1},
ddc = {610},
cid = {I:(DE-Juel1)INM-1-20090406},
pnm = {5251 - Multilevel Brain Organization and Variability
(POF4-525)},
pid = {G:(DE-HGF)POF4-5251},
typ = {PUB:(DE-HGF)16},
doi = {10.1016/j.xhgg.2025.100481},
url = {https://juser.fz-juelich.de/record/1048713},
}