Varaico: Literature-Extracted Genetic Variants

Gene:KDM5C
Variant:p.D402N
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KDM5C

NM_004187.5:p.D402N

Associated Papers

A potentially pathogenic KDM5C variant in X-linked high myopia.

Zhang J et al.

Gene, 2025

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.

Cronbach N et al.

Pharmaceuticals (basel, Switzerland), 2025

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Trajkova S et al.

Hgg Advances, 2024

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

Giovenino C et al.

European Journal of Human Genetics : Ejhg, 2023

Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.

Reis LM et al.

Genes, 2023

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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."