Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.L1175fs
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CHD8

NM_001170629.2:p.L1175fs

Associated Papers

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.

Sorrentino U et al.

Journal of Neurology, 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."