Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.Q978*
Back to variants list

AHDC1

NM_001371928.1:p.Q978*

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

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.

Khayat MM et al.

Human Mutation, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."