Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.A200V
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ZC4H2

NM_018684.4:p.A200V

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

Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression.

Li Y et al.

Journal of Molecular Cell Biology, 2022

Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.

Piccolo G et al.

Frontiers in Neurology, 2021

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

ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus.

Ma P et al.

Open Biology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."