Varaico: Literature-Extracted Genetic Variants

Gene:KCNK18
Variant:p.S252L
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KCNK18

NM_181840.1:p.S252L

Associated Papers

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

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.

Pavinato L et al.

International Journal of Molecular Sciences, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."