Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.Y1176_E1177insFs
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CHD8

NM_001170629.2:p.Y1176_E1177insFs

Associated Papers

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Ostrowski PJ et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

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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."