Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.A200T
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ZC4H2

NM_018684.4:p.A200T

Associated Papers

Zinc-Induced Folding and Solution Structure of the Eponymous Novel Zinc Finger from the ZC4H2 Protein.

Harris RE et al.

Biomolecules, 2025

Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.

Wongkittichote P et al.

Clinical Genetics, 2023

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM et al.

Human Mutation, 2019

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