Associated Papers
A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.
Kaur N et al.
Neurogenetics, 2026
Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.
Hiraide T et al.
Frontiers in Pediatrics, 2024
Crystal structure of the human PRPK-TPRKB complex.
Li J et al.
Communications Biology, 2021
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA et al.
Nature Genetics, 2017
Select a paper to view details