Unraveling the Dual Role of HNF1A Variants: From Rare Diabetes Forms to Atherogenic Lipoproteins

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Presented by
Dr. Amit R. Majithia, M.D.
Dr. Amit R. Majithia, M.D.
UCSD, School of Medicine

Covered in this Webinar
Site Saturation Variant Libraries (SSVL) and how they are used for functional annotation of common mutations
Rare gain-of-function mutations in HNF1A appear protective against type 2 diabetes
Mutations increasing HNF1A transcriptional activity may increase atherosclerotic risk
Twist SSVL libraries enable deep mutational scanning and functional annotation on a large-scale

Learn more about: 

  • Site Saturation Variant Libraries (SSVL) and how they are used for functional annotation of common mutations
  • Rare gain-of-function mutations in HNF1A appear protective against type 2 diabetes
  • Mutations increasing HNF1A transcriptional activity may increase atherosclerotic risk
  • Twist SSVL libraries enable deep mutational scanning and functional annotation on a large-scale

You can download an audio only recording of the webinar here. 

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