Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.I244delFs
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AHDC1

NM_001371928.1:p.I244delFs

Associated Papers

Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis.

Jiang N et al.

European Journal of Human Genetics : Ejhg, 2025

[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].

Fan L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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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."