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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD3

Variant:p.L1865fs

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CHD3

NM_001005273.3:p.L1865fs

hg38:chr17:7910430 CTG>N

Associated Papers

Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome.

Tie X et al.

American Journal of Medical Genetics. Part A, 2025

39542866 (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."