Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ10
Variant:p.R26*
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KCNJ10

NM_002241.5:p.R26*

Associated Papers

Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Li YL et al.

Annals of Neurology, 2024

38979912 (PubMed )
Supplement: supplement_1.docx

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Majethia P et al.

Clinical Genetics, 2024

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
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