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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD2

Variant:p.R846*

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CHD2

NM_001271.4:p.R846*

hg38:chr15:92974909 C>T

Associated Papers

Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.

Chen Y et al.

Seizure, 2025

41197259 (PubMed )

Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy.

You C et al.

Seizure, 2024

39068850 (PubMed )

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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."