Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.G54D
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C2

NM_000063.6:p.G54D

Associated Papers

Expanding the spectrum of Darier disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis.

Stefani C et al.

Gene, 2026

Mannose-Binding Lectin and Mannose-Binding Lectin-Associated Serine Protease-2 Genotypes and Serum Levels in Patients with Sporotrichosis.

Bao F et al.

The American Journal of Tropical Medicine and Hygiene, 2019

Genetic variation and cerebrospinal fluid levels of mannose binding lectin in pneumococcal meningitis patients.

Brouwer MC et al.

Plos One, 2013

Mannose-binding lectin genotype and serum levels in patients with chronic and allergic pulmonary aspergillosis.

Harrison E et al.

International Journal of Immunogenetics, 2012

Role of genetic polymorphisms in factor H and MBL genes in Tunisian patients with immunoglobulin A nephropathy.

Gorgi Y et al.

International Journal of Nephrology and Renovascular Disease, 2010

Genetic susceptibility to mycobacterial disease in humans.

Fernando SL et al.

Immunology and Cell Biology, 2006

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Lerner-Ellis JP et al.

Human Mutation, 2004

Mannose binding lectin (MBL) gene mutation is not a risk factor for systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese.

Horiuchi T et al.

Genes and Immunity, 2000

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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."