Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.W321G
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CFP

NM_001145252.3:p.W321G

Associated Papers

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Vorsteveld EE et al.

Clinical Immunology (orlando, Fla.), 2024

Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.

Willems E et al.

Clinical & Translational Immunology, 2020

33318796 (PubMed )
Supplement: CTI2-9-e1225-s001.pdf

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."