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Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population.

Arati Nandan SaptarshiRashmi K DongerdiyeTejashree Anil MorePrabhakar S Kedar
Published in: Italian journal of pediatrics (2023)
Our data showed that High-Resolution Melting (HRM) analysis could be used to rapidly screen common SEC23B mutation that causes CDA II in the Indian population.
Keyphrases
  • high resolution
  • mass spectrometry
  • chronic kidney disease
  • machine learning
  • big data