Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.V483fs
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CHD7

NM_017780.4:p.V483fs

Associated Papers

[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].

Tao Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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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."