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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD7

Variant:p.R2515delFs

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CHD7

NM_017780.4:p.R2515delFs

hg38:chr8:60856823 AG>A

Associated Papers

Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

Nomakuchi TT et al.

American Journal of Medical Genetics. Part A, 2023

36794641 (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."