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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD7

Variant:p.V323A

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CHD7

NM_017780.4:p.V323A

hg38:chr8:60742400 T>C

Associated Papers

Cloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase.

Colin C et al.

Bmc Research Notes, 2010

20925924 (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."