Phrases with «missense variants»

"Missense variants" refers to changes or errors in our genetic material (DNA) that result in a single alteration in the building blocks (nucleotides) of a specific gene. This alteration causes the gene to produce a different, usually incorrect, protein. The term "missense" implies that the alteration leads to a change in the protein's structure or function, which may have various implications for our health or traits. Full definition

Sentences with «missense variants»

  • Whole - exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls. (content.iospress.com)
  • De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. (mendelian.org)
  • Saturday, Oct. 21, 9:45 - 10:45 a.m., Room 220F, South Building Platform Session: Improved Interpretation of Missense Variants Moderators: James Ware, Imperial College London; and Kaitlin Samocha, Wellcome Trust Sanger Institute (ashg.org)
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