Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ1
Variant:p.D791delFs
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SYNJ1

NM_203446.3:p.D791delFs

Associated Papers

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

Maj M et al.

Molecular Genetics & Genomic Medicine, 2023

36148638 (PubMed )
Supplement: MGG3-11-e2064-s001.xlsx › data
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