Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.V43F
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DHCR7

NM_001360.3:p.V43F

Associated Papers

[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].

Che F 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."