Varaico: Literature-Extracted Genetic Variants

Gene:CHD5
Variant:p.A272V
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CHD5

NM_015557.3:p.A272V

Associated Papers

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Parenti I et al.

Human Genetics, 2021

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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."