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The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.

Abderaouf HamzaCarine El-SissyNadhir YousfiPaula Vieira MartinsCédric RafatJulien Masliah-PlanchonVéronique Frémeaux-BacchiLaurent Mesnard
Published in: European journal of human genetics : EJHG (2023)
Keyphrases
  • genome wide
  • bioinformatics analysis
  • single molecule