Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.P233L
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KCNK4

NM_033310.3:p.P233L

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses.

Chandler N et al.

Prenatal Diagnosis, 2025

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.

Vaknin N et al.

Prenatal Diagnosis, 2022

Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy.

Yan HJ et al.

Frontiers in Molecular Neuroscience, 2022

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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."