Varaico: Literature-Extracted Genetic Variants

Gene:C8A
Variant:p.D129N
Back to variants list

C8A

NM_000562.3:p.D129N

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het

Rare variants in complement system genes associate with endothelial damage after pediatric allogeneic hematopoietic stem cell transplantation.

Leimi L et al.

Frontiers in Immunology, 2023

37771589 (PubMed )
Supplement: DataSheet_2.pdf

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.

D'Alterio G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4

Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.

Larsen CP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."