Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.P962insFs
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AHDC1

NM_001371928.1:p.P962insFs

Associated Papers

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

Jiang N et al.

European Journal of Human Genetics : Ejhg, 2025

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

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.

Cardoso-Dos-Santos AC et al.

Molecular Syndromology, 2020

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Ritter AL et al.

American Journal of Medical Genetics. Part A, 2018

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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."