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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD7

Variant:p.G484delFs

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CHD7

NM_017780.4:p.G484delFs

hg38:chr8:60742881 TG>T

Associated Papers

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

Kim D et al.

Journal of Human Genetics, 2025

40000719 (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."