Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.C772G
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ECEL1

NM_004826.4:p.C772G

Associated Papers

[Clinical and genetic analysis of a pedigree affected with Distal arthrogryposis type 5D due to compound heterozygous variants of ECEL1 gene].

Hu W et al.

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

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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."