Varaico: Literature-Extracted Genetic Variants

Gene:C8B
Variant:p.D382Y
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C8B

NM_000066.4:p.D382Y

Associated Papers

Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration.

Zelinger L et al.

Iscience, 2023

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

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1

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

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies.

Hatchwell E et al.

Frontiers in Neurology, 2022

36588876 (PubMed )
Supplement: Data_Sheet_1.pdf

Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.

Eis PS et al.

Frontiers in Neurology, 2020

32256442 (PubMed )
Supplement: Data_Sheet_2.pdf

C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.

Ravindran A et al.

Mayo Clinic Proceedings, 2018

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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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."