Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.R48K
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C6

NM_000065.5:p.R48K

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

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

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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