Associated Papers
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients.
Bavan S et al.
Human Mutation, 2022
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Zhang Y et al.
Human Molecular Genetics, 2021
Dynamic coupling of voltage sensor and gate involved in closed-state inactivation of kv4.2 channels.
Barghaan J et al.
The Journal of General Physiology, 2009
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