Associated Papers
Features of membrane protein sequence direct post-translational insertion.
Kalinin IA et al.
Nature Communications, 2024
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA et al.
Brain : a Journal of Neurology, 2023
Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun H et al.
Life (basel, Switzerland), 2021
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.
Ittiwut C et al.
Brain & Development, 2021
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