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Article

Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.

The Journal of allergy and clinical immunology - 1 May 2025

Nieto-Patlán Alejandro, Ross Justyne, Mohan Shruthi, Paczosa Michelle K, Soliman Rasha, Sarmento Olga, Aliu Ermal, Thiyagarajan Lavvina, Chandra Anita, Picard Capucine, Warnatz Klaus, Jolles Stephen, Lesmana Harry, Maglione Paul J, Platt Craig D, Sediva Anna, Sullivan Kathleen E, Zhang Kejian, Raval Forum, Tangye Stuart G, Abraham Roshini S

Abstract excerpt

BACKGROUND: The Clinical Genome Resource (ClinGen) is an international collaborative effort among scientists and clinicians, diagnostic and research laboratories, and the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as definitive, strong, moderate, and limited on the basis of available scientific and clinical evidence. When the...

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Identifiers

PMID: 39826876
DOI: 10.1016/j.jaci.2025.01.005
PMCID: PMC13244549

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