Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.E98A
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C6

NM_000065.5:p.E98A

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

Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection.

Soejima M et al.

Annals of Human Genetics, 2005

Single nucleotide polymorphisms in the human complement C6 and C7 genes.

Nishimukai H et al.

Legal Medicine (tokyo, Japan), 2003

Five new polymorphisms in the complement C7 gene and their association with C7 deficiency.

Fernie BA et al.

Experimental and Clinical Immunogenetics, 1999

The molecular basis of C6 deficiency in the western Cape, South Africa.

Hobart MJ et al.

Human Genetics, 1998

Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

Fernie BA et al.

Human Genetics, 1998

Molecular defects leading to human complement component C6 deficiency in an African-American family.

Zhu ZB et al.

Clinical and Experimental Immunology, 1998

Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject.

Hobart MJ et al.

Clinical and Experimental Immunology, 1997

Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

Fernie BA et al.

Journal of Immunology (baltimore, Md. : 1950), 1996

DNA polymorphisms of the complement C6 and C7 genes.

Fernie BA et al.

Annals of Human Genetics, 1995

Complement component C6 and C7 haplotypes associated with deficiencies of C6.

Fernie BA et al.

Annals of Human Genetics, 1995

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