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Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.
Erik Boot
Cathelijne C Linders
Sterre H Tromp
Marie-José van den Boogaard
Agnies M van Eeghen
Published in:
American journal of medical genetics. Part A (2021)
Keyphrases
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copy number
case report
gene expression
dna methylation