Varaico: Literature-Extracted Genetic Variants

Gene:KCNK18
Variant:p.R167*
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KCNK18

NM_181840.1:p.R167*

Associated Papers

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

Majethia P et al.

Clinical Genetics, 2024

38374498 (PubMed )
Supplement: EMS195231-supplement-Supplementary_tables.xlsx › S3_Published

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.

Majethia P et al.

Clinical Dysmorphology, 2023

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