Varaico: Literature-Extracted Genetic Variants

Gene:KDM3A
Variant:p.R547*
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KDM3A

NM_018433.6:p.R547*

Associated Papers

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Levine JM et al.

American Journal of Human Genetics, 2026

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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."