Varaico: Literature-Extracted Genetic Variants

Gene:CD46
Variant:p.C162Y
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CD46

NM_172351.3:p.C162Y

Associated Papers

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

Franco-Jarava C et al.

Journal of Clinical Immunology, 2017

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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."