Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.L1206*
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CHD8

NM_001170629.2:p.L1206*

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

The clinical presentation caused by truncating CHD8 variants.

Douzgou S et al.

Clinical 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."