Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.L647P
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KDM5C

NM_004187.5:p.L647P

Associated Papers

Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.

Terry BK et al.

Human Molecular Genetics, 2026

Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.

Terry BK et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."