Varaico: Literature-Extracted Genetic Variants

Gene:BMAL1
Variant:p.E501K
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BMAL1

NM_001297719.2:p.E501K

Associated Papers

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome.

Cuddapah VA et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."