Associated Papers
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
Preiksaitiene E et al.
American Journal of Medical Genetics. Part A, 2020
Structure of protein O-mannose kinase reveals a unique active site architecture.
Zhu Q et al.
Elife, 2016
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
Di Costanzo S et al.
Human Molecular Genetics, 2014
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