Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.Q332*
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AHDC1

NM_001371928.1:p.Q332*

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

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.

Carvalho LML et al.

Gene, 2023

Genetic investigation of syndromic forms of obesity.

Carvalho LML et al.

International Journal of Obesity (2005), 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."