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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Updated: Aug 3, 2025

Author Spotlight: Advancements in Multiplex Detection of Respiratory Viruses
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Is COVID-19 All That Glitters?

Salvatore Spampinato1, Maurizio Di Marco1, Luciano Mammolito1

  • 1Department of Clinical and Experimental Medicine, Internal Medicine, Garibaldi-Nesima Hospital, University of Catania, 95122 Catania, Italy.

Journal of Clinical Medicine
|April 13, 2023
PubMed
Summary

The COVID-19 pandemic may have delayed diagnoses of rare diseases, including vasculitis. This case study highlights the diagnostic journey of a rare vasculitis in a young woman with a recent SARS-CoV-2 infection.

Area of Science:

  • Immunology
  • Infectious Diseases
  • Rheumatology
Keywords:
COVID-19MIS-CSARS-CoV-2 infectionTakayasu arteritislarge vessels vasculitispandemic

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Background:

  • The global health emergency caused by Coronavirus-19 (COVID-19) has redirected scientific and clinical focus.
  • Novel pathologies associated with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), like Multisystemic Inflammatory Syndrome (MIS-C, MIS-A), have been identified.
  • The intense focus on COVID-19 may have led to underdiagnosis or delayed diagnosis of non-SARS-CoV-2 related conditions, including rare diseases.