Varaico: Literature-Extracted Genetic Variants

Gene:CHD4
Variant:p.T494M
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CHD4

NM_001273.5:p.T494M

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

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Pinard A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Whole Genome Sequencing Identifies Key Genes in Spinal Schwannoma.

Gao X et al.

Frontiers in Genetics, 2020

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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."