Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.C211F
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RAG1

NM_000448.3:p.C211F

Associated Papers

Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene.

Ghadimi S et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023

Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.

Luk ADW et al.

Frontiers in Immunology, 2017

Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.

Lee PP et al.

Journal of Clinical Immunology, 2011

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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."