Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.P165_Q166Fs
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CHD7

NM_017780.4:p.P165_Q166Fs

Associated Papers

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.

Corsten-Janssen N et al.

Molecular Syndromology, 2013

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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."