Campeau PM

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

Jacob P, Lindelöf H, Rustad CF, ..., Girisha KM, Grigelioniene G

npj Genom. Med. 8 (1) 39 [2023-11-22; online 2023-11-22]

Clinical Genomics Stockholm [Service]

ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.

Mattison KA, Tossing G, Mulroe F, ..., Campeau PM, Escayg A

Brain - (-) - [2022-09-08; online 2022-09-08]

Clinical Genomics Stockholm [Service]