Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.R789*
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AHDC1

NM_001371928.1:p.R789*

Associated Papers

The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.

Zhang S et al.

Pediatric Research, 2025

40993358 (PubMed )
Supplement: 41390_2025_4427_MOESM2_ESM.xlsx › Sheet1

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Tran Mau-Them F et al.

Molecular Genetics & Genomic Medicine, 2021

34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
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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."