Varaico: Literature-Extracted Genetic Variants

Gene:AP4E1
Variant:p.L602F
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AP4E1

NM_007347.5:p.L602F

Associated Papers

DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation.

He YY et al.

Frontiers in Molecular Neuroscience, 2023

38249294 (PubMed )
Supplement: Table_2.XLSX › Sheet1
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