Associated Papers
KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing.
Lee WW et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2024
De novo variants in KCNJ3 are associated with early-onset epilepsy.
Li J et al.
Journal of Medical Genetics, 2024
Consequences of somatic mutations of GIRK1 detected in primary malign tumors on expression and function of G-protein activated, inwardly rectifying, K+ channels.
Pelzmann B et al.
Frontiers in Oncology, 2022
36483038 (PubMed )
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