Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.G379R
Back to variants list

C7

NM_000587.4:p.G379R

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.

Skrypnyk C et al.

Bmc Pregnancy and Childbirth, 2024

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.

Balduit A et al.

Frontiers in Immunology, 2023

The first case report of complement component 7 deficiency in Qatar and a 10-year follow-up.

Khalil SM et al.

Frontiers in Immunology, 2023

Comprehensive Update and Revision of Nomenclature on Complement C6 and C7 Variants.

Massri M et al.

Journal of Immunology (baltimore, Md. : 1950), 2022

2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2020

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."