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Severe congenital myasthenic syndrome with novel variants in the CHRND gene.
Hidehito Kondo
Yukiko Tsuji
Tomoko Lee
Yoshihiko Saito
Ichizo Nishino
Published in:
Pediatrics international : official journal of the Japan Pediatric Society (2022)
Keyphrases
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copy number
genome wide
early onset
case report
genome wide identification
dna methylation
gene expression
drug induced