Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.A185E
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KCNJ10

NM_002241.5:p.A185E

Associated Papers

Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.

Huang X et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Li YL et al.

Annals of Neurology, 2024

38979912 (PubMed )
Supplement: supplement_1.docx
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