Varaico: Literature-Extracted Genetic Variants

Gene:MSL2
Variant:p.I260delFs
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MSL2

NM_018133.4:p.I260delFs

Associated Papers

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Karayol R et al.

American Journal of Human Genetics, 2024

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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."