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Paper Details

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.
Clin Dysmorphol
4
2019
Author NameAffiliation
Sofia DouzgouSt Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre.
Sofia DouzgouUniversity of Manchester.
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Datasets

Release 1.2