A novel <i>SYNJ1</i> homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

Mary C. Maj(St. George's University), Andrew K. Sobering(St. George's University), Ruth H. Walker(James J. Peters VA Medical Center), Beverly Nelson(St. George's University), Sarah Gluschitz(St. George's University), Kevin Landau(St. George's University), Håkon Håkonarson(Children's Hospital of Philadelphia), Elizabeth Bhoj(Children's Hospital of Philadelphia), Helga V. Toriello(Spectrum Health), Dong Li(Children's Hospital of Philadelphia), Christie L. Taylor(University of Georgia)
Molecular Genetics & Genomic Medicine
September 23, 2022
Cited by 5


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