Associated Papers
VarMeter: a prediction method for the impact of glycogene variants.
Ohno S et al.
Journal of Human Genetics, 2025
Further evidence for POMK as candidate gene for WWS with meningoencephalocele.
Paul L et al.
Orphanet Journal of Rare Diseases, 2020
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
3D structural analysis of protein O-mannosyl kinase, POMK, a causative gene product of dystroglycanopathy.
Nagae M et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2017
Structure of protein O-mannose kinase reveals a unique active site architecture.
Zhu Q et al.
Elife, 2016
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
von Renesse A et al.
Journal of Medical Genetics, 2014
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