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
Discovery and functional characterization of a germline, CSF2RB-activating mutation in leukemia.
Watanabe-Smith K et al.
Leukemia, 2016
27118405 (PubMed )
Supplement: NIHMS777047-supplement-1.pdf
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