Varaico: Literature-Extracted Genetic Variants

Gene:C7
Variant:p.K420Q
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C7

NM_000587.4:p.K420Q

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

Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2020

33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs

Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Hong S et al.

Molecular Genetics & Genomic Medicine, 2019

Complement C7 is a novel risk gene for Alzheimer's disease in Han Chinese.

Zhang DF et al.

National Science Review, 2019

Genetic Analyses of Alzheimer's Disease in China: Achievements and Perspectives.

Zhang DF et al.

Acs Chemical Neuroscience, 2019

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

Kuijpers TW et al.

Molecular Immunology, 2010

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

Nishimukai H et al.

Legal Medicine (tokyo, Japan), 2003

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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."