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EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome.

Miguel Rodríguez-MoralesEduardo Liquidano-PerezGilda Garza-MayénLilia Patricia Bustamante-MontesCamilo E Villarroel
Published in: Journal of clinical immunology (2022)
Keyphrases
  • case report
  • early onset
  • copy number