Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.Q754*
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AHDC1

NM_001371928.1:p.Q754*

Associated Papers

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

Jiang N et al.

European Journal of Human Genetics : Ejhg, 2025

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

Ballesta-Martínez MJ et al.

Orphanet Journal of Rare Diseases, 2023

37480025 (PubMed )
Supplement: 13023_2023_2809_MOESM1_ESM.pdf
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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."