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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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 mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
Di Costanzo S et al.
Human Molecular Genetics, 2014
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