Varaico: Literature-Extracted Genetic Variants

Gene:CD55
Variant:p.R52C
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CD55

NM_000574.5:p.R52C

Associated Papers

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

Kager L et al.

Hemasphere, 2024

38434532 (PubMed )
Supplement: HEM3-8-e31-s001.docx

Tackling COVID-19 infection through complement-targeted immunotherapy.

Jodele S et al.

British Journal of Pharmacology, 2021

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.

Neuhofer CM et al.

Molecular Syndromology, 2020

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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."