Varaico: Literature-Extracted Genetic Variants

Gene:C5
Variant:p.I238T
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C5

NM_001735.3:p.I238T

Associated Papers

Description and phenotype of a novel C5 gene mutation and a novel combination: family report and literature review.

Lizama-Muñoz A et al.

Frontiers in Immunology, 2025

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.

El Sissy C et al.

Frontiers in Immunology, 2019

31440263 (PubMed )
Supplement: Table_1.DOCX
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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."