Varaico: Literature-Extracted Genetic Variants

Gene:CHAMP1
Variant:p.Y636*
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CHAMP1

NM_032436.4:p.Y636*

Associated Papers

Clinical characteristics, molecular mechanisms, and exploration of association with gastrointestinal symptoms in CHAMP1 gene variation-related neurodevelopmental disorders.

Xu Z et al.

Frontiers in Neurology, 2025

[Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene].

Xu J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

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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."