Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.G548S
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AHDC1

NM_001371928.1:p.G548S

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

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Kaschta D et al.

Genome Medicine, 2025

40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort

AHDC1 missense mutations in Xia-Gibbs syndrome.

Khayat MM et al.

Hgg Advances, 2021

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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."