Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.A784Splc
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C7

NM_000587.4:p.A784Splc

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

Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.

Spedicati B et al.

European Journal of Human Genetics : Ejhg, 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

Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease.

Kuijpers TW et al.

Molecular Immunology, 2010

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

Rameix-Welti MA et al.

European Journal of Immunology, 2007

Two mutations of the C7 gene, c.1424G > A and c.281-1G > T, in two Korean families.

Kang HJ et al.

Journal of Clinical Immunology, 2006

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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."