Varaico: Literature-Extracted Genetic Variants

Gene:SETD1A
Variant:p.E1002fs
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SETD1A

NM_014712.3:p.E1002fs

Associated Papers

Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome.

Lan M et al.

Frontiers in Neurology, 2023

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