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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD3

Variant:p.H1161L

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CHD3

NM_001005273.3:p.H1161L

hg38:chr17:7903048 A>T

Associated Papers

Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.

Enomoto Y et al.

European Journal of Human Genetics : Ejhg, 2025

39988727 (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."