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A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.

Stella K MacDonaldAren E MarshallGabrielle T LemireTaila Hartleynull nullKristin D KernohanKym M Boycott
Published in: American journal of medical genetics. Part A (2022)
Keyphrases
  • single cell
  • case report
  • genome wide
  • gene expression