Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Q2486*
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CHD7

NM_017780.4:p.Q2486*

Associated Papers

Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.

Bilan F et al.

The Journal of Molecular Diagnostics : Jmd, 2012

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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."