Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.R112H
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KCTD7

NM_153033.5:p.R112H

Associated Papers

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

Yoganathan S et al.

Epilepsia, 2024

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Akbar F et al.

Epilepsy & Behavior Reports, 2022

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

Luo S et al.

Frontiers in Genetics, 2020

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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."