Associated Papers
The conductance of KCNQ2 and its pathogenic variants is determined by individual subunit gating.
Hinojo-Perez A et al.
Science Advances, 2025
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_1_pV_lpV_variants
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