Varaico: Literature-Extracted Genetic Variants

Gene:HERC1
Variant:p.C427insFs
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HERC1

NM_003922.4:p.C427insFs

Associated Papers

First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.

Reshadmanesh A et al.

Archives of Iranian Medicine, 2024

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