Varaico: Literature-Extracted Genetic Variants

Gene:CALD1
Variant:p.R117W
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CALD1

NM_033138.4:p.R117W

Associated Papers

A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis.

Aba Ü et al.

Journal of Clinical Immunology, 2024

38270687 (PubMed )
Supplement: 10875_2024_1658_MOESM1_ESM.pdf
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