Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB47
Variant:p.M1insFs
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ZBTB47

NM_145166.4:p.M1insFs

Associated Papers

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

Ward SK et al.

American Journal of Medical Genetics. Part A, 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."