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Publications by Julien Buratti
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
Identification of Biallelic Germline Variants of SRP68 in a Sporadic Case With Severe Congenital Neutropenia
Haematologica
Hematology
