Varaico: Literature-Extracted Genetic Variants

Gene:HERC2
Variant:p.E2184insFs
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HERC2

NM_004667.6:p.E2184insFs

Associated Papers

Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype.

Garg R et al.

Frontiers in Pediatrics, 2025

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