Varaico: Literature-Extracted Genetic Variants

Gene:CNOT1
Variant:p.V246delFs
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CNOT1

NM_016284.5:p.V246delFs

Associated Papers

[Clinical and genetic analysis of a Chinese pedigree affected with Vissers-Bodmer syndrome due to variant of CNOT1 gene and a literature review.]

Jiao Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

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