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De novo variants in ATP2B1 lead to neurodevelopmental delay:

Rahimi, Meer Jacob ; Urban, Nicole ; Wegler, Meret...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.03.009. , 2022

Link: https://hal.science/hal-04152067

RT Journal
T1 <Title>De novo variants in ATP2B1 lead to neurodevelopmental delay</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-04152067v1&Exemplar=1&LAN=DE
				
A1 Rahimi, Meer Jacob
A1 Urban, Nicole
A1 Wegler, Meret
A1 Sticht, Heinrich
A1 Schaefer, Michael
A1 Popp, Bernt
A1 Gaunitz, Frank
A1 Morleo, Manuela
A1 Nigro, Vincenzo
A1 Maitz, Silvia
A1 Mancini, Grazia M S
A1 Ruivenkamp, Claudia
A1 Suk, Eun-Kyung
A1 Bartolomaeus, Tobias
A1 Merkenschlager, Andreas
A1 Koboldt, Daniel
A1 Bartholomew, Dennis
A1 Stegmann, Alexander P A
A1 Sinnema, Margje
A1 Duynisveld, Irma
A1 Salvarinova, Ramona
A1 Race, Simone
A1 de Vries, Bert B A
A1 Trimouille, Aurelien
A1 Naudion, Sophie
A1 Marom, Daphna
A1 Hamiel, Uri
A1 Henig, Noa
A1 Demurger, Florence
A1 Rahner, Nils
A1 Bartels, Enrika
A1 Hamm, J Austin
A1 Putnam, Abbey M
A1 Person, Richard
A1 Abou Jamra, Rami
A1 Oppermann, Henry
PB HAL CCSD; Elsevier (Cell Press)
YR 2022
K1 HEK293 Cells
K1 Humans
K1 Intellectual Disability
K1 Mutation
K1 Missense
K1 Nervous System Malformations
K1 Neurodevelopmental Disorders
K1 Phenotype
K1 Plasma Membrane Calcium-Transporting ATPases
K1 [SDV.GEN]Life Sciences [q-bio]/Genetics
JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.03.009
LK http://dx.doi.org/https://hal.science/hal-04152067
DO https://hal.science/hal-04152067
SF ELIB - SuUB Bremen

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