Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.P1630insFs
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SHANK3

NM_001372044.2:p.P1630insFs

Associated Papers

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features.

Li L et al.

Frontiers in Genetics, 2025

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