Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.P42H
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CALHM3

NM_001129742.2:p.P42H

Associated Papers

Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.

Liao YX et al.

Journal of Clinical Immunology, 2025

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Handschug K et al.

Human Molecular Genetics, 2001

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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."