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Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.

Shuwei LiDajun QianBryony A ThompsonStephanie GutierrezSitao WuTina PesaranHolly LaDucaHsiao-Mei LuElizabeth C ChaoMary Helen Black
Published in: Journal of medical genetics (2019)
Our study demonstrates that when used separately or in conjunction with other evidence, tumour characteristics provide evidence for germline MMR missense variant assessment, which may have important implications for genetic testing and clinical management.
Keyphrases
  • intellectual disability
  • dna repair
  • oxidative stress
  • escherichia coli
  • staphylococcus aureus