TP53 Gene Variants.pdf

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Preview of TP53 Gene Variants
🔗 Source: uu.diva-portal.org
📊 Size: 2.84 MB
👤 Author: Flora Doffe
⬇️ Downloads: 95

Summary

Researchers identified 19 new missense SNPs in the TP53 gene, including 5 novel variants specific to the Asian population, by analyzing 14 independent datasets from 202,767 cancer-free individuals. Using in silico, functional, structural, and genetic approaches, they found that none of these variants displayed loss of function compared to the normal TP53 gene, and classification using ACMG criteria suggested they are all benign, highlighting the importance of correctly assessing novel variants in genetic diagnoses for cancer.

Description

Researchers identified 19 new missense SNPs in the TP53 gene, including 5 novel variants specific to the Asian population, by analyzing 14 independent datasets...

Technical Information

  • File Format: PDF
  • File Size: 2.84 MB
  • Pages: 16
  • Language: EN
  • Author: Flora Doffe
  • Total Downloads: 95
  • Last Updated: 7 days ago

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