Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.S2456*
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CHD7

NM_017780.4:p.S2456*

Associated Papers

Mutations in the CHD7 gene: the experience of a commercial laboratory.

Bartels CF et al.

Genetic Testing and Molecular Biomarkers, 2010

Abnormal basiocciput development in CHARGE syndrome.

Fujita K et al.

Ajnr. American Journal of Neuroradiology, 2009

Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.

Asakura Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."