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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD2

Variant:p.K1389fs

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CHD2

NM_001271.4:p.K1389fs

hg38:chr15:93002204 AAA>N

Associated Papers

Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy.

Feng W et al.

Pediatric Investigation, 2022

35774528 (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."