Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.L991S
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CHD7

NM_017780.4:p.L991S

Associated Papers

[Clinical features and genetic analysis of a case with CHARGE syndrome due to variant of CHD7 gene].

Han C et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

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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."