Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2H1
Variant:p.V2985G
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DYNC2H1

NM_001377.3:p.V2985G

Associated Papers

[Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene].

Zhao C et al.

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

Genetic analysis of 55 cases with fetal skeletal dysplasia.

Bai Y et al.

Orphanet Journal of Rare Diseases, 2022

36352425 (PubMed )
Supplement: 13023_2022_2559_MOESM1_ESM.xlsx › Table_S3.
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