Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.Q703*
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C7

NM_000587.4:p.Q703*

Associated Papers

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

Balduit A et al.

Frontiers in Immunology, 2023

Human genetics of meningococcal infections.

Hodeib S et al.

Human Genetics, 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

C7 deficiency and meningococcal infection susceptibility in two spanish families.

Barroso S et al.

Scandinavian Journal of Immunology, 2010

Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.

Rameix-Welti MA et al.

European Journal of Immunology, 2007

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