A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual

Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering

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Medicine & Life Sciences