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Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene.

Vykuntaraju K GowdaVarunvenkat M SrinivasanMaya BhatAsha Benakappa
Published in: Indian journal of pediatrics (2018)
Keyphrases
  • copy number
  • genome wide
  • gene expression
  • dna methylation