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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD3

Variant:p.R1242Q

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CHD3

NM_001005271.3:p.R1242Q

hg38:chr17:7903324 G>A

Associated Papers

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Pascual P et al.

Genes, 2023

37761804 (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."