Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.K494fs
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AHDC1

NM_001371928.1:p.K494fs

Associated Papers

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Sennes MGS et al.

Clinical Genetics, 2025

40501103 (PubMed )
Supplement: CGE-108-654-s003.xlsx › References

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.

Brea-Fernández AJ et al.

European Journal of Human Genetics : Ejhg, 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."