Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.D1147E
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CHD4

NM_001273.5:p.D1147E

Associated Papers

In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.

Novillo A et al.

Human Mutation, 2026

CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.

Liu XR et al.

Cns Neuroscience & Therapeutics, 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."