Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.Q2039delFs
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CHD8

NM_001170629.2:p.Q2039delFs

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

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
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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."