Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.K104E
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C3

NM_000064.4:p.K104E

Associated Papers

Characterization and structure-based protein engineering of a regiospecific saponin acetyltransferase from Astragalus membranaceus.

Wang L et al.

Nature Communications, 2023

Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.

Aigner C et al.

Journal of Clinical Medicine, 2020

32244370 (PubMed )
Supplement: jcm-09-00964-s001.pdf

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › C3

Maternal and Fetal Outcomes of Pregnancies in Women with Atypical Hemolytic Uremic Syndrome.

Gaggl M et al.

Journal of the American Society of Nephrology : Jasn, 2018

Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.

Szarvas N et al.

Molecular Immunology, 2016

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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."