Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.C791fs
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AHDC1

NM_001371928.1:p.C791fs

Associated Papers

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

AHDC1 missense mutations in Xia-Gibbs syndrome.

Khayat MM et al.

Hgg Advances, 2021

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA et al.

Journal of Medical Genetics, 2017

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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."