Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.R596*
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C6

NM_000065.5:p.R596*

Associated Papers

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

Massri M et al.

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

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.

Zhang AQ et al.

Experimental and Therapeutic Medicine, 2021

Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2021

Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency.

Li PH et al.

Clinical & Translational Immunology, 2020

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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